Our genetic research gives everyday people the opportunity to make a difference by participating in a new kind of research —online, from anywhere.
Once participants answer online survey questions, researchers link their genetic data to study topics from ancestry, to traits, to disease. These contributions help drive scientific discoveries.
The choice to opt into or out of research is always up to the participant.
You can participate in Mount Sinai Asthma Health and Stanford Medicine's MyHeart
Counts large-scale medical studies. Right from your iPhone.
Your 23andMe genetic information can be integrated into large-scale medical
studies beyond 23andMe for the first time with the ResearchKit app. The studies
are poised to transform medical research and empower more people to join more
studies through 23andMe's app integration. You can join the studies on asthma and heart
disease by going to the iTunes store and downloading the apps on your iPhone.
ResearchKit is a registered trademark of Apple Inc.
Accelerating research.
Making an impact.
On average, a customer who chooses to opt into research contributes to over 230
studies on topics that range from Parkinson's disease to lupus to asthma and
more.
With the help of our 23andMe community we believe we can accelerate research and
make an impact with our genetic data.
"I get inspiration from knowing that my participation could help prevent or cure diseases for future generations. I believe it's
important to be part of the solution, and for me that means taking part in research."
Kirsten Kraft
23andMe customer
"I get inspiration from knowing that my participation could help prevent or cure diseases for future generations. I believe it's
important to be part of the solution, and for me that means taking part in research."
Kirsten Kraft
23andMe customer
How it works.
When you participate in our research, you can answer survey questions online,
day or night. From your phone or laptop, for five minutes or fifty, your
contribution is up to you.
By answering online survey questions and allowing researchers to combine your
genetic data with millions of other data points, you can help drive scientific
and medical discoveries. See our list of publications here.
When you participate in research, you can answer survey questions
online, day or night. From your phone or laptop, for five minutes or
fifty, your contribution is up to you.
By answering online survey questions and allowing researchers to combine
your genetic data with millions of other data points, you can help drive
scientific and medical discoveries.
As a customer, you will be asked if you would like to opt into research.
More than eighty percent of our customers choose to participate. You can
opt into or out of research at any time.
Our research activities are reviewed by an independent ethics committee,
also known as an Institutional Review Board (IRB).
More on: how it works.
When you participate in research, you can answer survey questions
online, day or night. From your phone or laptop, for five minutes or
fifty, your contribution is up to you.
By answering online survey questions and allowing researchers to combine
your genetic data with millions of other data points, you can help drive
scientific and medical discoveries.
As a customer, you will be asked if you would like to opt into research.
More than eighty percent of our customers choose to participate. You can
opt into or out of research at any time.
Our research activities are reviewed by an independent ethics committee,
also known as an Institutional Review Board (IRB).
Bringing experts together.
We have received four grants from the U.S. National Institutes of Health to fund our research and have identified hundreds of new genetic associations. We regularly publish our research in leading, peer-reviewed scientific journals.
We collaborate with some of the best and brightest talent in the world of genetics research.
Here are some of our collaborators:
ACADEMIC:
University of Chicago
MRC Epidemiology Unit at Cambridge University
Broad Institute of MIT and Harvard
Stanford University
INDUSTRY:
GlaxoSmithKline (GSK)
Alnylam Pharmaceuticals, Inc.
Biogen
Genentech
Pfizer
P&G Beauty
NON-PROFITS:
Lupus Research Institute
The Michael J. Fox Foundation
National Parkinson Foundation
Parkinson's Institute and Clinical Center
ACADEMIC
University of Chicago
MRC Epidemiology Unit at Cambridge University
Broad Institute of MIT and Harvard
Stanford University
INDUSTRY
GlaxoSmithKline (GSK)
Alnylam Pharmaceuticals, Inc.
Biogen
Genentech
Pfizer
P&G Beauty
NON-PROFITS
Lupus Research Institute
The Michael J. Fox Foundation
National Parkinson Foundation
Parkinson's Institute and Clinical Center
Hi. Still have questions about research?
Here are just a few of the things people frequently ask about 23andMe.
If you don't see your question here,
get in touch with us.
When you participate in our research program, your data is de-identified. That
means your registration information is stripped from your genetic data so you
cannot reasonably be identified. We do not include any of your registration
information (like your name, email, etc.) in our research database. We store
personal information that researchers do need for analysis (like date of birth)
in a separate database from the genetic data, and they are only linked by a
randomly assigned research ID.
Most of our research is performed using aggregate-level data. That means
researchers link your de-identified data with millions of other data points and
look at the data set as a whole. We may also ask you for your explicit consent to
share your individual-level information with approved third-party researchers.
All research activities conducted by 23andMe Research are reviewed by an
Institutional Review Board (IRB) and participation is completely voluntary.
The IRB is an independent ethics panel that
ensures all research is conducted in accordance with government and ethical
guidelines.
If you are a 23andMe customer and have registered your kit, you will have the option to
consent to our research. You can opt into and out of our research at any time by
updating your consent status in your account settings. If you opt out, we will stop
using your information for research going forward (we cannot affect studies
that have already been completed) and will discontinue use of your data within 30 days.
We believe DNA can provide insight into why some people are more likely to get a
disease than others. We want to understand, through genetics, why people respond
differently to disease treatment options and drugs.
We develop research communities in collaboration with other organizations
(academic, pharmaceutical and non-profit). These research communities are large cohorts of people
who share a common disease or condition, such as Parkinson's disease or
inflammatory bowel disease (IBD). With this large set of data, we are able to
analyze similarities and differences and study the potential impact of environment and lifestyle
on disease development. Today, two of our largest study cohorts are
Parkinson's disease
and
depression and bipolar.
In addition to working with partners that focus on drug development, 23andMe
also conducts its own research to try to identify new therapies for both common
and rare diseases. To further this effort, 23andMe created a therapeutics group
in 2015 that focuses on the discovery of novel treatments through human genetics.
Learn more about Genetic Health Risks and Carrier Status
reports, genetic counseling and what to know about test results. For more information
about other reports included in our Health + Ancestry Service, including Wellness,
Traits and Ancestry, click here.
The following information applies to Genetic Health Risk reports only.
What you should know
23andMe Genetic Health Risk Reports:
What you should know
Genetic Health Risk reports tell you about genetic variants associated with increased
risk for certain health conditions. They do not diagnose cancer or any other health conditions or
determine medical action.
Having a risk variant does not mean you will definitely develop a health condition.
Similarly, you could still develop the condition even if you don't have a variant detected. It is
possible to have other genetic risk variants not included in these reports.
Factors like lifestyle and environment can also affect whether a person develops
most health conditions. Our reports cannot tell you about your overall risk for these conditions, and
they cannot determine if you will or will not develop a condition.
These reports do not replace visits to a healthcare professional. Consult with a
healthcare professional for help interpreting and using genetic results. Results should
not be used to make medical decisions.
There are many things to think about when deciding whether genetic testing is right for you. Although
these tests can provide important information about health risks, they can also be upsetting or raise
questions about what the results mean. Genetic tests also have certain limitations that are important to
understand. Your personal and family medical history, as well as your goals for testing, should all factor into
your decisions about whether and how to test.
A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to
answer your questions and help you make an informed choice. We recommend that you speak with a
genetic counselor before testing, and also after testing to help you understand your results and what
actions you should take. This is especially important for health conditions that are preventable or treatable.
Genetic counselors can help you navigate common questions, such as:
What are the risks and benefits of genetic testing?
Are there diseases that run in the family?
How do you handle potentially distressing information?
What are you hoping to find out from genetic testing?
Talk to your healthcare provider or click here to search for a genetic counselor near
you (this link takes you to a page managed by the National Society of Genetic Counselors:
http://www.aboutgeneticcounselors.com/).
Variant(s) not detected
You do not have the variant(s) we tested. Since these tests do not include all variants that
may impact your risk of developing a condition, you may still have another variant that could
affect your risk. Non-genetic factors may also affect your risk.
Variant(s) detected
You have one or more of the variants we tested. You may be at increased risk for the condition based on this
result. This does not mean you will definitely develop the condition. Other factors may also affect your risk.
Result not determined
Your test result could not be determined. This can be caused by random test error or other factors that
interfere with the test.
In some cases, the laboratory may not be able to
process your sample. If this happens, we will notify you
by email and you may request one free replacement
kit.
Other companies offering genetic risk tests may
include different variants for the same health condition.
This means that it's possible to get different results
using a test from a different company.
What to do with the results
If your report says you have variants associated with increased risk
Consider sharing the result with a healthcare professional.
Certain results, such as having a variant detected for the BRCA1/
BRCA2 (Selected Variants) report, may warrant prompt follow-up
with a healthcare professional, since effective options may exist
to prevent or reduce risk for disease. Each report will provide
more specific guidance.
Consider sharing your results with relatives. They may also have these variants. Keep in mind that some people may not want to know information about genetic health risks.
If your report says you do not have any risk variants detected
Continue to follow screening and other healthy behaviors
recommended by your healthcare provider. This is because our
reports do not cover all factors that might influence risk.
Concerned about your risk?
If you have other risk factors for the condition, you should discuss the condition with a doctor.
You can also discuss your results with a
genetic counselor (this link takes you to a page managed by the National Society of
Genetic Counselors to find a genetic counselor near you: http://www.aboutgeneticcounselors.com/).
Genetic Health Risk reports are intended to provide you with
genetic information to inform conversations with a healthcare
professional. These reports should not be used to make medical
decisions. Always consult with a healthcare professional before
taking any medical action.
You will be asked whether you want to receive certain Genetic Health Risk reports
You will be asked whether you want to receive certain Genetic Health Risk reports
Some of our reports are about serious diseases that may not have an effective treatment or
cure. Others may have effective treatment or prevention options, but these actions may carry
their own health risks. You may be upset by learning about genetic risks for these diseases, and
about genetic risks for family members who share DNA. If you tend to feel anxious or have a
personal history of depression or anxiety, this information may be more likely to be
upsetting. Knowing about genetic risks
could also affect your ability to get some kinds of insurance.
You can choose to exclude the following reports individually from your account before your results
are returned to you:
BRCA1/BRCA2 (Selected Variants)
MUTYH-Associated Polyposis
Late-Onset Alzheimer’s Disease
Parkinson’s Disease
If you are interested in receiving these reports, we recommend that you consult with a genetic
counselor before purchasing. Additional relevant information about these reports will be
provided when you go through the process of setting your report preferences, after registering
your kit.
What to know about: Age-Related Macular Degenerationand our test
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss among older adults. The disease results in damage to the central part of the retina (the macula), impairing vision needed for reading, driving, or even recognizing faces. This test includes the two most common variants associated with an increased risk of developing the condition.
Typical signs and symptoms
Blurred or distorted vision
Vision loss
Yellow fatty deposits in the retina called "drusen"
Blood or fluid leakage in the retina
Other factors that influence risk
Smoking
Age
Family history
Ethnicity
Diet
When symptoms develop
AMD is rarely diagnosed in people under the age of 50. Vision loss related to AMD usually becomes noticeable in a person's 60s or 70s and tends to worsen over time.
How it's treated
There is currently no known prevention or cure for AMD. Having regular eye exams can help detect early signs of the condition. Progression of AMD can be slowed with the use of certain treatments and medications.
What do we test?
Tests for the Y402H variant in the CFH gene and the A69S variant in the ARMS2 gene associated with an increased risk of developing AMD.
Genetic testing for AMD is not currently recommended by any healthcare professional organizations.
Relevant ethnicities
The variants included in this test are common in many ethnicities, but are best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Alpha-1 Antitrypsin Deficiencyand our test
AAT deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) protein. This test includes the two most common variants linked to this deficiency.
Potential signs and symptoms of AAT deficiency
Shortness of breath and wheezing
Chronic cough
Recurrent lung infections
Lung disease, including emphysema
Liver disease, including cirrhosis
Other factors that increase risk
Genetic variants are the only risk factor for AAT deficiency. In people with
genetic risk variants, the chances of developing symptoms of AAT deficiency depend
on lifestyle, environment, and other factors.
Smoking
Occupational and other exposures
Personal or family history of lung disease
Certain infections
When symptoms develop
Because it is a genetic condition, AAT deficiency is present at birth. Symptoms of lung disease usually appear later in life, and age of onset is strongly affected by smoking. Some people may never have symptoms of lung disease, especially if they don't smoke. Liver problems may develop anytime from infancy to adulthood.
How it's treated
There is currently no known cure. People with AAT deficiency are encouraged to avoid smoking and consider getting certain vaccinations. For those with symptoms, treatment focuses on management of lung and liver problems. Direct replacement of the AAT protein into the blood may be used to slow the progression of lung disease. Lung and liver transplants may be beneficial in some cases.
What do we test?
Tests for the PI*Z and PI*S variants in the SERPINA1 gene linked to AAT deficiency.
Testing for genetic variants associated with AAT deficiency is recommended under certain circumstances by several health professional organizations, including the American Thoracic Society.
Relevant ethnicities
The variants included in this test are most common and best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: BRCA1/BRCA2 (Selected Variants)and our test
Specific genetic variants in the BRCA1 and BRCA2 genes are associated with an increased risk of developing certain cancers, including breast cancer (in women and men) and ovarian cancer. These variants may also be associated with an increased risk for prostate cancer and certain other cancers. This test includes three genetic variants in the BRCA1 and BRCA2 genes that are most common in people of Ashkenazi Jewish descent.
BRCA1- and BRCA2-associated cancer risks
Women with a variant have a 45-85% chance of developing breast cancer by age 70 and up to a 46% chance of developing ovarian cancer by age 70.
Men with a variant have up to an 8% lifetime risk of developing male breast cancer and may have an increased risk for prostate cancer.
Men and women with a variant may also have an increased risk for pancreatic cancer and melanoma.
When cancers develop
In general, the chances of developing cancer increase as a person gets older. However, women with a BRCA1 or BRCA2 variant have an increased risk for early-onset breast cancer. Men with a variant may develop earlier and more aggressive prostate cancer.
Screening and prevention
Guidelines recommend that women with a BRCA1 or BRCA2 variant should be screened for breast cancer earlier and more often. Risk-reducing surgery or medication may also be offered. Men with a variant should be screened for breast cancer. Screening guidelines for prostate cancer vary. People with a BRCA1 or BRCA2 variant and a family history of pancreatic cancer may also be offered pancreatic cancer screening. This test is not a substitute for visits to a healthcare professional for recommended screenings. Results should be confirmed in a clinical setting before taking any medical action. It is important to talk with a healthcare professional before taking any medical action.
What do we test?
We test for three specific genetic variants: the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. These variants are associated with an increased risk of developing certain cancers.
We do not test for all possible variants in the BRCA1 and BRCA2 genes. More than 1,000 variants in these genes are known to increase cancer risk.
This test does not include variants in other genes linked to hereditary cancers.
Genetic testing for BRCA1 and BRCA2 variants in the general population is not currently recommended by any healthcare professional organizations.
Important ethnicities
The three variants included in this test are most commonly found in people of Ashkenazi Jewish descent.
In 23andMe customers of other ethnicities, between 0% and 0.1% of individuals has one of the three variants in this report.
This test does not include most of the BRCA1 and BRCA2 variants found in people of other ethnicities. Therefore, a "variants not detected" result is less informative for people with no Ashkenazi Jewish ancestry.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
Celiac disease is an autoimmune condition in which the consumption of gluten (found in wheat, barley, and rye) can result in damage to the small intestine. Celiac disease can lead to both digestive and non-digestive problems. This test includes two common variants associated with an increased risk of developing this condition.
Typical signs and symptoms
Diarrhea, gas, and bloating
Poor appetite
Skin rashes
Fatigue
Anemia
Headache
Other factors that influence risk
Gluten
Family history
Other conditions
When symptoms develop
Celiac disease can develop anytime from infancy to adulthood, most commonly between the ages of 10 and 40. In people with celiac disease, symptoms occur after consuming gluten.
How it's treated
Celiac disease can be effectively treated by removing all sources of gluten from the diet. This includes foods and drinks made with wheat, barley, and rye.
What do we test?
Tests for variants near the HLA-DQA1 and HLA-DQB1 genes linked to the HLA-DQ2.5 and HLA-DQ8 haplotypes. These haplotypes are associated with celiac disease.
Genetic testing for celiac disease is recommended under certain circumstances by several health professional organizations, including the American College of Gastroenterology.
Relevant ethnicities
The variants included in this test are common in many ethnicities, but are best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Chronic Kidney Disease (APOL1-Related)and our test
Chronic kidney disease is a condition in which the kidneys stop working properly over time. Because the kidneys serve as filters for our blood, chronic kidney disease can cause excess fluid and waste from the blood to build up in the body. This can lead to health problems including bone damage, heart disease, and stroke. This test includes two variants in the APOL1 gene that can increase the risk of developing chronic kidney disease. These variants are most common in people of African descent.
Typical signs and symptoms
Chronic kidney disease often has no symptoms at first. Early chronic kidney disease is often diagnosed using blood and urine tests that look for loss of kidney function (called reduced glomerular filtration rate) and the presence of protein in the urine (called albuminuria).
Symptoms such as nausea, fatigue, high blood pressure, and swelling of the feet and ankles (called edema) can occur as the condition progresses.
Complications of chronic kidney disease include heart disease or stroke, anemia, bone problems, a weakened immune system, and kidney failure.
Other factors that influence risk for chronic kidney disease
High blood pressure
Diabetes
Age
Ethnicity
Family history
Other health conditions
When symptoms develop
In general, the risk of developing chronic kidney disease increases with age. Most cases of chronic kidney disease are diagnosed in people age 65 and over. However, people with APOL1-related chronic kidney disease tend to develop the condition at an earlier age. Their kidney function also tends to decline more quickly than people whose chronic kidney disease is due to other factors.
How it's treated
Treatment for chronic kidney disease depends on the severity of the condition. When detected early, chronic kidney disease may be treated in part through lifestyle changes to slow progression. Medications may also be prescribed to treat symptoms. If the condition progresses to end-stage kidney disease (also called kidney failure), patients may require ongoing dialysis (a procedure that artificially filters waste and extra fluid from the blood) or a kidney transplant.
What do we test?
Tests for the S342G and N388_Y389del variants in the APOL1 gene, which are used to define the G1 and G2 haplotypes, respectively. These haplotypes are linked to an increased risk for chronic kidney disease.
Genetic testing for APOL1 variants in the general population is not currently recommended by any healthcare professional organizations.
Most cases of chronic kidney disease are not caused by the APOL1 variants in this report.
Relevant ethnicities
The variants included in this test are most common and best studied in people of African descent.
These variants are also found in people with African ancestry, including people of Hispanic or Latino descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Familial Hypercholesterolemiaand our test
Familial hypercholesterolemia (FH) is a genetic condition associated with very high levels of cholesterol in the blood, specifically low-density lipoprotein (LDL), or "bad" cholesterol. High cholesterol due to FH increases the risk for early cardiovascular disease, which can lead to a heart attack. This test includes 24 genetic variants linked to FH.
Typical signs and symptoms
Elevated total and LDL cholesterol levels
Heart disease, heart attack, or chest pain
In some cases, cholesterol deposits may build up in the skin or tendons (xanthomas), under the skin in the eyelids (xanthelasmas), or around the cornea of the eye (corneal arcus)
Other factors that influence risk
Family history
Age
High blood pressure
Smoking
Other genetic factors
Lifestyle
When symptoms develop
Because it is a genetic condition, FH is present at birth, meaning most people with this condition have high LDL cholesterol levels from a young age. Since many people with FH show no physical symptoms, this condition is typically diagnosed with a blood test for cholesterol. However, some people with FH may not be diagnosed until after experiencing symptoms related to early heart disease, including chest pain or heart attack.
How it's treated
Early and active treatment of FH can substantially reduce the risk for heart disease. FH treatment focuses on lowering LDL cholesterol levels, and FH is usually treated with cholesterol-lowering medications. Lifestyle modifications, including diet, exercise, and weight control can help lower LDL cholesterol levels. But these changes are generally not enough to effectively manage the condition. In extreme cases of FH, LDL-apheresis, a procedure that filters cholesterol out of the blood, can be used when other treatments have failed.
What do we test?
Tests for one variant in the APOB gene and 23 variants in the LDLR gene. These variants are linked to having very high LDL cholesterol levels, which is associated with an increased risk for heart disease.
Genetic testing for FH in the general population is not currently recommended by any healthcare professional organizations.
However, the U.S. CDC recommends that screening using cholesterol testing with or without DNA analysis should be conducted on relatives of people with familial high cholesterol.
Heart disease risk associated with FH variants varies from person to person. Overall risk depends on family history and other factors.
Relevant ethnicities
The majority of the variants included in this test are most commonly found in people of European and Lebanese descent, as well as in the Old Order Amish. In addition, some of these variants have also been found in other ethnicities.
However, more than 1,000 variants have been linked to FH in people of European descent, as well as in people of other ethnicities. This test does not include the majority of those variants.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: G6PD Deficiencyand our test
G6PD deficiency is a common genetic condition caused by defects in an enzyme called glucose-6-phosphate dehydrogenase, or G6PD. The G6PD enzyme helps protect red blood cells from damage. In people with G6PD deficiency, red blood cells are destroyed upon exposure to certain environmental triggers, which can lead to episodes of anemia. This test includes two common variants linked to G6PD deficiency.
Typical signs and symptoms
Anemia
Dark urine
Fatigue
Pale skin
Shortness of breath
Jaundice (yellowing of the skin and eyes), especially in newborns
Other factors that influence risk
Certain medications
Certain infections
Certain foods
When symptoms develop
Because it is a genetic condition, G6PD deficiency is present at birth. However, people with this condition typically don't develop symptoms unless they are exposed to certain triggering factors. Many people with G6PD deficiency never develop symptoms.
How it's treated
Most people with G6PD deficiency do not require treatment. People with G6PD deficiency often manage their condition by avoiding certain medications and foods that may trigger symptoms. If a person is exposed to a trigger and develops anemia, symptoms usually clear up on their own. However, in some cases patients may require a blood transfusion.
What do we test?
Tests for the V68M and S188F variants in the G6PD gene linked to G6PD deficiency.
Genetic testing for G6PD deficiency in adults in the general population is not currently recommended by any healthcare professional organizations.
Relevant ethnicities
The V68M variant included in this test is most common and best studied in people of African descent. This variant is also found in people with African ancestry, including people of Hispanic or Latino descent.
The S188F variant included in this test is most common and best studied in people of Southern European, Kurdish Jewish, Middle Eastern, Central Asian, and South Asian descent.
This test does not include variants that are more common in people of East and Southeast Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Hereditary Amyloidosis (TTR-Related)and our test
TTR-related hereditary amyloidosis is a genetic condition caused by the buildup of a protein called transthyretin (TTR) in the body's tissues and organs. This protein buildup, called amyloidosis, can damage the nerves, the heart, and other parts of the body. This test includes three of the most common genetic variants linked to TTR-related hereditary amyloidosis.
Typical signs and symptoms
Symptoms can vary widely depending on which TTR variant a person has and the location(s) of TTR protein buildup.
Symptoms can vary even among people with the same variant. People with TTR-related hereditary amyloidosis may experience:
Cardiomyopathy (heart damage), characterized by thickening of the walls of the heart, which can lead to heart failure.
Peripheral neuropathy (damage to the nerves that connect the spinal cord to the rest of the body, including the arms and legs), characterized by symptoms including carpal tunnel syndrome as well as tingling, numbness, or burning in the hands, legs, or feet.
Autonomic neuropathy (damage to the nerves that help control the internal organs), characterized by symptoms including constipation, diarrhea, sexual dysfunction, and dizziness.
Other factors that influence risk
Age
Sex
Ethnicity
Other genetic variants
When symptoms develop
TTR-related hereditary amyloidosis typically develops in adulthood, but age of onset can vary widely. People with the V122I variant typically develop symptoms after the age of 60. People with the V30M variant can develop symptoms as early as their 20s or as late as their 90s, depending on ethnicity and family history. People with the T60A variant typically develop symptoms between 45 and 80 years of age.
How it's treated
TTR-related hereditary amyloidosis is often managed by treating the symptoms through medications or surgical intervention. However, some recently approved medications work by decreasing the production of the TTR protein, which makes it less likely to build up in the body's tissues and organs. In addition, most of the TTR protein is produced in the liver, and liver transplants have been beneficial for some patients. Scientists are currently working on other treatment options for this condition.
What do we test?
Tests for three variants in the TTR gene linked to TTR-related hereditary amyloidosis.
Genetic testing for TTR-related hereditary amyloidosis in the general population is not currently recommended by any healthcare professional organizations.
Relevant ethnicities
V122I: Most common and best studied in African Americans and people of West African descent.
V30M: Most common and best studied in people of Portuguese, Northern Swedish, and Japanese descent.
T60A: Most common and best studied in people of Irish descent and also found in people of British descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Hereditary Hemochromatosis (HFE‑Related)and our test
Hereditary hemochromatosis is a genetic condition characterized by absorption of too much dietary iron. This may lead to iron overload, which can cause damage to the joints and certain organs, such as the liver, skin, heart, and pancreas. This test includes the two most common variants linked to this condition.
Typical signs and symptoms
Joint and abdominal pain
Fatigue and weakness
Darkening of the skin
Liver disease
Heart disease
Diabetes
Other factors that influence risk
Age
Sex
Alcohol consumption
Diet
When symptoms develop
Because it is a genetic condition, hereditary hemochromatosis is present at birth. Many people with this condition never develop iron overload. Of those who do develop iron overload, only a small number develop symptoms. If men develop symptoms, they typically appear between 40 and 60 years of age. Women rarely develop symptoms, and when they do it tends to be after menopause.
How it's treated
People with hereditary hemochromatosis are typically monitored for symptoms or complications. Iron overload related to hereditary hemochromatosis is a treatable condition. In some patients, having blood drawn on a regular basis can help lower iron levels. People with iron overload are encouraged to avoid drinking alcohol to minimize liver damage and to limit intake of iron-rich food.
What do we test?
Tests for the C282Y and the H63D variants in the HFE gene linked to hereditary hemochromatosis.
Genetic testing for hereditary hemochromatosis is recommended under certain circumstances by several health professional organizations, including the American Association for the Study of Liver Diseases and the European Association for the Study of the Liver.
Relevant ethnicities
The variants included in this test are best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Hereditary Thrombophiliaand our test
Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs. This test includes the two most common variants linked to hereditary thrombophilia.
Typical signs and symptoms of harmful blood clots
Pain, tenderness, swelling, or redness in one or both legs
Chest pain
Difficulty breathing
Hereditary thrombophilia may also be associated with recurrent late pregnancy loss in some women.
Other risk factors for harmful blood clots
Major surgery
Age
Prolonged immobility
Oral contraceptives
Obesity
When symptoms develop
Hereditary thrombophilia is genetic, but the risk of developing harmful blood clots increases with age and other factors.
How it's treated
Hereditary thrombophilia typically does not require any ongoing treatment. In some cases medications can be used to prevent harmful blood clots from forming. Medications and surgery can also be used to break up existing clots.
What do we test?
Tests for the Factor V Leiden variant in the F5 gene and the Prothrombin G20210A variant in the F2 gene linked to hereditary thrombophilia.
Testing for genetic variants associated with hereditary thrombophilia is recommended by ACMG under certain circumstances. This test includes the two variants recommended for testing by ACMG.
Relevant ethnicities
The variants included in this test are most common and best studied in people of European descent.
These variants are also found in populations with European ancestry, like African Americans and Hispanics or Latinos.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: Late-Onset Alzheimer's Diseaseand our test
Alzheimer's disease is characterized by memory loss, cognitive decline, and personality changes. Late-onset Alzheimer's disease is the most common form of Alzheimer's disease, developing after age 65. Many factors, including genetics, can influence a person's chances of developing the condition. This test includes the most common genetic variant associated with late-onset Alzheimer's disease.
Typical signs and symptoms
Memory loss that worsens over time
Mood and personality changes
Trouble planning or solving problems
Confusion with place or time
Difficulty performing daily life activities
Other factors that influence risk
Age
Sex
Family history
Heart health
Lifestyle
Intellectual activity
When symptoms develop
Late-onset Alzheimer's disease develops after 65 years of age.
How it's treated
There is currently no known prevention or cure for Alzheimer's disease. Medication may be used to delay or ease symptoms.
What do we test?
Tests for the ε4 variant in the APOE gene associated with an increased risk of developing late-onset Alzheimer's disease.
This test does not identify or report on the ε2 and ε3 variants of the APOE gene. These variants are not associated with an increased risk of developing Alzheimer's disease.
Genetic testing for late-onset Alzheimer's disease is not currently recommended by any healthcare professional organizations.
Relevant ethnicities
The ε4 variant included in this test is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
What to know about: MUTYH-Associated Polyposisand our test
MUTYH-associated polyposis (MAP) is one of the three main hereditary colorectal cancer syndromes. People with two variants or two copies of a variant in the MUTYH gene tend to develop colon and rectal polyps and have an increased risk of developing colorectal cancer. They may also have a slightly increased risk of developing certain other cancers. This test includes two genetic variants in the MUTYH gene that are most common and best studied in people of Northern European descent.
When it develops
Most colorectal cancers start as abnormal growths on the inner lining of the colon or rectum, called polyps. People with MAP tend to develop between ten and a hundred polyps by age 50. These polyps can become cancerous. However, some people with MAP may develop colorectal cancer in the absence of colon or rectal polyps.
Lifetime cancer risks
Without appropriate surveillance, people with two MUTYH variants or two copies of a MUTYH variant have a 43-100% chance of developing colorectal cancer in their lifetime. They may also have a slightly increased risk for certain other cancers.
Scientists are uncertain as to how having one MUTYH variant may influence a person’s colorectal cancer risk. Some studies suggested a slightly increased risk, particularly if the person has a family history of colorectal cancer.
Other factors that influence cancer risk
Age
Family history
Ethnicity
Lifestyle factors
Other genetic factors not included in this test
Screening and prevention
Professional guidelines recommend that individuals with two MUTYH variants or two copies of a MUTYH variant should be screened for colon and rectal polyps earlier and more often, and undergo surveillance for small bowel polyps.
Current U.S. guidelines recommend that individuals with one MUTYH variant follow colorectal screening recommendations for the general population. However, for people who have had a first-degree relative with colorectal cancer and people who have a personal history of colorectal polyps (regardless of whether they have a MUTYH variant), these guidelines have different recommendations, which may include screening earlier and more often than the general population.
What do we test?
We test for the Y179C and G396D variants in the MUTYH gene. People with two variants or two copies of a variant have an increased risk of developing colorectal cancer. They may also have a slightly increased risk for certain other cancers.
We do not test for all possible variants in the MUTYH gene. More than 100 MUTYH variants are known to increase colorectal cancer risk.
This test does not include variants in other genes that are linked to other hereditary colorectal cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP).
Genetic testing for MUTYH variants in the general population is not currently recommended by any healthcare professional organizations.
Cancer risk associated with MUTYH variants varies from person to person. Overall risk depends on family history and other factors.
Relevant ethnicities
The variants included in this test are most common and best studied in people of Northern European descent. However, these two variants have also been found in other ethnicities.
Test performance summary
Accuracy was determined by comparing results from this test with results
from sequencing. Greater than 99% of test results were correct. While unlikely,
this test may provide false positive or false negative results. For more
details on the analytical performance of this test, refer to the
package insert.
What to know about: Parkinson's Diseaseand our test
Parkinson's disease is characterized by tremor, muscle stiffness, and problems with movement. Many factors, including genetics, can influence a person's chances of developing Parkinson's disease. This test includes two genetic variants associated with increased risk of developing the condition.
Typical signs and symptoms
Tremor
Muscle stiffness
Slow movements
Problems with balance
Memory loss in some cases
Other factors that influence risk
Age
Sex
Family history
Exposure to certain chemicals
When symptoms develop
Parkinson's disease typically develops in adulthood, after 55 years of age.
How it's treated
There is currently no known prevention or cure for Parkinson's disease. Certain medications may be used to delay or ease symptoms. Speech, physical, and occupational therapies may also help with symptom management.
What do we test?
Tests for the G2019S variant in the LRRK2 gene and the N370S variant in the GBA gene associated with an increased risk of developing Parkinson's disease.
Genetic testing for Parkinson's disease is not currently recommended by any healthcare professional organizations.
Relevant ethnicities
The variants included in this test are most common and best studied in people of European, Ashkenazi Jewish, and North African Berber descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the
package insert.
We encourage you to learn more so you can decide whether testing is right
for you. A genetic counselor, a healthcare professional with special
training in genetic conditions, will be able to answer your specific
questions and help you make an informed decision.
Genetic counselors can help you navigate common questions, such as:
What are the risks and benefits of testing?
Are there diseases that run in the family?
How do you handle potentially distressing information?
What are you hoping to find out from genetic testing?
Talk to your healthcare provider or click here to search for a genetic counselor near
you (this link takes you to a page managed by the National Society of Genetic Counselors:
http://www.aboutgeneticcounselors.com/).
0 Variants
You do not have the variant(s) we tested. There is still a chance that
you could have a variant not covered by this test.
1 Variant**
You are a carrier and could pass the variant on to each of your
children.
2 Variants***
You will most likely pass a variant on to each of your children.
Result not determined
Your result could not be determined.
* For some reports, a customer may receive a result indicating that they have two copies of a variant. In these cases, the customer will pass a variant on to each of his or her children.
** For some reports, customers with one copy of a variant will also be told that they are at risk for developing symptoms of the condition.
*** For some reports, customers with two variants (or two copies of a variant) will also be told that they are at risk for developing symptoms of the condition.
What to do with the results:
Have a family history of a genetic condition? Planning to have children?
Share your results with your doctor and discuss further testing options.
You can also discuss your results with a
genetic counselor (this link takes you to a page managed by the National Society of
Genetic Counselors to find a genetic counselor near you: http://www.aboutgeneticcounselors.com/).
Consider sharing your results with relatives.
Your information – as well as knowing their own carrier
status – may be useful to them.
ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition.
Typical signs and symptoms
Muscle stiffness that worsens over time
Loss of sensation in hands and feet that worsens over time
Impaired movement and balance that worsens over time
When symptoms develop
Symptoms typically develop during early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the SACS gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Agenesis of the Corpus Callosum with Peripheral Neuropathyand our test
ACCPN is a rare genetic disorder. It is characterized by an incomplete connection between the two sides of the brain. This causes developmental disability, weakness, and loss of sensation. A person must have two variants in the SLC12A6 gene in order to have this condition.
Typical signs and symptoms
Weakness and sensory loss that worsens over time
Poor or absent reflexes
Tremors
Developmental disability
Shortened lifespan
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on physical and occupational therapy as well as other forms of supportive care as symptoms worsen, often into adulthood.
What do we test?
1 variant in the SLC12A6 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Autosomal Recessive Polycystic Kidney Diseaseand our test
ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition.
Typical signs and symptoms
Kidney disease
Liver disease
Respiratory problems
High blood pressure
Urinary tract infections
When symptoms develop
Symptoms typically develop before birth or during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing the symptoms of kidney, lung, and liver disease, as well as managing blood pressure.
What do we test?
3 variants in the PKHD1 gene.
This test does not include a large fraction of PKHD1 variants that cause ARPKD in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include a large fraction of PKHD1 variants that cause ARPKD in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Beta Thalassemia and Related Hemoglobinopathiesand our test
Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have this condition.
Typical signs and symptoms
Anemia
Fatigue
Enlarged liver and spleen
Poor growth and weight gain
Bone deformities
Iron buildup in multiple organs
When symptoms develop
Symptoms typically develop any time from late infancy (severe form) into adulthood (intermediate form).
How it's treated:
Treatment focuses on managing symptoms and preventing complications. Some individuals may require frequent blood transfusions.
What do we test?
10 variants in the HBB gene.
Symptoms of beta thalassemia may vary between people with the condition depending on the variants involved.
Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG via complete blood count and hemoglobin electrophoresis for people of African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian descent considering having children.
Relevant ethnicities:
This test is most relevant for people of Cypriot, Greek, Italian, and Sardinian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Bloom Syndromeand our test
Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer. A person must have two variants in the BLM gene in order to have this condition.
Typical signs and symptoms
Small body size
Recurring infections
Cancer at a young age
Sun-sensitive skin
Infertility in men
Early menopause in women
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.
What do we test?
1 variant in the BLM gene.
Symptoms of Bloom syndrome may vary between people with the condition even if they have the same genetic variants.
Carrier testing for Bloom syndrome is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the variant recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Canavan Diseaseand our test
Canavan disease is a rare genetic disorder characterized by a loss of nerve cell function in the brain that worsens over time. A person must have two variants in the ASPA gene in order to have this condition.
Typical signs and symptoms
Developmental disability
Gradual loss of muscle tone
Seizures
Difficulty swallowing
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on preventing complications by monitoring diet, treating infectious diseases, and managing seizures.
What do we test?
3 variants in the ASPA gene.
Carrier testing for Canavan disease is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the two variants recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)and our test
PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. It is characterized by developmental delay, muscle weakness, and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition.
Typical signs and symptoms
Developmental delay
Muscle weakness
Failure to gain weight
Small head size and distinct facial features
When symptoms develop
Symptoms typically develop in infancy.
How it's treated:
There is currently no known cure. Treatment focuses on nutritional, occupational, speech, and physical therapy.
What do we test?
2 variants in the PMM2 gene.
Severity of symptoms can vary in people with this disorder, even when the same variants are involved.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish and Danish descent.
This test does not include a large fraction of PMM2 variants that cause PMM2-CDG in people of Dutch descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Cystic Fibrosisand our test
Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this condition.
Typical signs and symptoms
Chronic cough
Lung infections
Pancreatic insufficiency
Malnutrition
Infertility in males
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as lung infections and malnutrition.
What do we test?
29 variants in the CFTR gene.
Symptoms of cystic fibrosis may vary depending on the variants involved.
the American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 22 of 23 variants recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of European, Hispanic/Latino, and Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: D-Bifunctional Protein Deficiencyand our test
DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone, developmental disability, seizures, and early death. A person must have two variants in the HSD17B4 gene in order to have this condition.
Typical signs and symptoms
Abnormal muscle tone
Seizures
Developmental disability
Hearing and vision loss
Distinctive facial features
Early death
When symptoms develop
Symptoms typically develop at birth or during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.
What do we test?
2 variants in the HSD17B4 gene.
This test does not include the majority of HSD17B4 variants that cause DBPD in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include the majority of HSD17B4 variants that cause DBPD in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Dihydrolipoamide Dehydrogenase Deficiencyand our test
DLD deficiency is a rare genetic disorder. It is typically characterized by low muscle tone and episodes of brain injury accompanied by liver disease. A person must have two variants in the DLD gene in order to have this condition.
Typical signs and symptoms
Buildup of lactic acid in the body
Episodes of brain injury
Developmental disabilities
Decreased muscle tone
Liver disease
Abdominal pain and vomiting
When symptoms develop
Symptoms can develop anytime from infancy to adulthood
How it's treated:
There is currently no known cure. Treatment focuses on maintaining a stable metabolic state through diet. Blood tests can be used for routine monitoring and to guide dietary recommendations.
What do we test?
1 variant in the DLD gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Familial Dysautonomiaand our test
Familial dysautonomia is a rare genetic disorder that affects many different parts of the body. It is characterized by severe dysfunction in different parts of the nervous system involved in movement, the senses, and involuntary (autonomic) functions. A person must have two variants in the ELP1 gene in order to have this condition.
Typical signs and symptoms
Episodes of involuntary nerve impairment
Motor and sensory nerve impairment
Poor growth
Developmental delay
When symptoms develop
Symptoms are typically present at birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing nerve dysfunction by providing medications and supportive care.
What do we test?
1 variant in the ELP1 gene.
Carrier testing for familial dysautonomia is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Familial Hyperinsulinism (ABCC8-Related)and our test
ABCC8-related familial hyperinsulinism is a rare genetic disorder. It is characterized by very high levels of insulin production. This leads to episodes of low blood sugar, which can cause low energy, seizures, and brain damage if left untreated. People with ABCC8-related familial hyperinsulinism most often have two variants in the ABCC8 gene.
Typical signs and symptoms
High levels of insulin
Low blood sugar
Low energy
Irritability
Seizures
Brain damage
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Treatment depends on the severity of the condition. Some people can maintain healthy blood glucose levels through medication or diet. Other people may require surgery to remove part of the pancreas.
What do we test?
3 variants in the ABCC8 gene.
Symptoms of familial hyperinsulinism may vary between people with the condition even if they have the same genetic variants.
There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American College of Obstetricians and Gynecologists (ACOG) notes that testing for familial hyperinsulinism may be considered for people of Ashkenazi Jewish descent who are considering having children.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Familial Mediterranean Feverand our test
Familial Mediterranean fever (FMF) is a genetic disorder. It is characterized by recurring short episodes of fever, as well as inflammation in the abdomen, chest, and joints. In some cases, there may be abnormal protein buildup in the kidneys. People with FMF most often have two variants in the MEFV gene.
Typical signs and symptoms
Periodic episodes of fever
Inflammation in the abdomen, chest, and joints
Skin rash
Abnormal protein buildup in the kidneys
When symptoms develop
FMF can develop anytime from early childhood to adulthood. For most people with the condition, the first episode occurs before the age of 20.
How it's treated:
During a fever episode, anti-inflammatory drugs may be used to manage fever and inflammation. In addition, medication can be prescribed by doctors to prevent fever attacks and kidney damage, especially for people who have the M694V variant.
What do we test?
7 variants in the MEFV gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Symptoms of FMF may vary between people with the condition even if they have the same genetic variants.
In some cases, people with only a single MEFV variant can experience symptoms of FMF. In addition, some studies have identified individuals who meet clinical criteria for FMF but do not have any MEFV variants.
Relevant ethnicities:
This test is most relevant for people of Arab, Armenian, Sephardic Jewish, and Turkish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Fanconi Anemia Group Cand our test
Fanconi anemia group C is a rare genetic disorder. It is characterized by a decreased production of blood cells, birth defects, and an increased risk of infections and cancer. A person must have two variants in the FANCC gene in order to have this condition.
Typical signs and symptoms
Skeletal and organ malformations at birth
Increased risk of cancer
Frequent infections
Decreased blood cell production
Very short height
Areas of lighter or darker skin color
When symptoms develop
Symptoms can develop anytime from birth to adulthood.
How it's treated:
There is currently no known cure. Treatment focuses on increasing the number of blood cells, managing disabilities, and screening for cancer. Stem cell transplants may correct blood cell problems in some cases.
What do we test?
3 variants in the FANCC gene.
Carrier testing for Fanconi anemia group C is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the one variant recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: GRACILE Syndromeand our test
GRACILE syndrome is a rare genetic disorder. It is characterized by impaired growth before birth, iron buildup, liver damage, and death in infancy. A person must have two variants in the BCS1L gene in order to have this condition.
Typical signs and symptoms
Small size at birth
Poor growth and weight gain
Iron buildup in the liver
Buildup of lactic acid in the body
Kidney and liver problems
Death in infancy
When symptoms develop
Symptoms typically develop before birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and ultimately providing end-of-life supportive care.
What do we test?
1 variant in the BCS1L gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Gaucher Disease Type 1and our test
Gaucher disease type 1 is a rare genetic disorder that can affect many organs. It often leads to an enlarged liver and spleen, as well as bone abnormalities. A person must have two variants in the GBA gene, or two copies of a variant, in order to have Gaucher disease type 1.
Typical signs and symptoms
Enlargement of the liver and spleen
Bone weakness and pain
Growth impairment
Anemia and low platelet count
When symptoms develop
Symptoms can develop anytime from childhood to adulthood and can vary from mild to severe. Some people may never develop symptoms.
How it's treated:
There is currently no known cure. Treatment varies depending on the severity of symptoms, but often includes enzyme replacement therapy.
What do we test?
3 variants in the GBA gene.
The severity of symptoms, and when they develop, can vary greatly in people with Gaucher disease type 1. Some people may never develop symptoms.
The 84GG and V394L variants can occasionally be found in people with the more severe, type 2 or type 3 forms of Gaucher disease. People with two copies of the N370S variant, or one copy of N370S and one copy of another variant, typically have the less severe, type 1 form of the disease.
Carrier testing for Gaucher disease type 1 is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes two of four variants recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Glycogen Storage Disease Type Iaand our test
GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and poor growth. A person must have two variants in the G6PC gene in order to have this condition.
Typical signs and symptoms
Low blood sugar
Liver enlargement
Very short height
Kidney and liver problems
Anemia
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing diet to control blood sugar levels and prevent problems with metabolism.
What do we test?
1 variant in the G6PC gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American College of Obstetricians and Gynecologists (ACOG) notes that testing for glycogen storage disease type I may be considered for people of Ashkenazi Jewish descent who are considering having children.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Glycogen Storage Disease Type Iband our test
GSDIb is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and frequent infections. A person must have two variants in the SLC37A4 gene in order to have this condition.
Typical signs and symptoms
Low blood sugar
Liver enlargement
Kidney and liver problems
Frequent infections
Very short height
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing diet in order to control blood sugar levels and prevent problems with metabolism. Medication can help prevent infections.
What do we test?
2 variants in the SLC37A4 gene.
This test does not include the majority of SLC37A4 variants that cause GSDIb in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include the majority of SLC37A4 variants that cause GSDIb in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Hereditary Fructose Intoleranceand our test
Hereditary fructose intolerance is a rare genetic disorder. It is characterized by low blood sugar levels, stomach pain, and vomiting after eating fructose. A person must have two variants in the ALDOB gene in order to have this condition.
Typical signs and symptoms
Nausea and vomiting
Low blood sugar
Stomach pain
Failure to gain weight
Liver disease
Kidney disease
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Maintaining a fructose-free diet may reduce or prevent symptoms.
What do we test?
4 variants in the ALDOB gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)and our test
LAMB3-related JEB is a rare genetic disorder. The Herlitz form is characterized by severe blistering of the skin and mucous membranes and, typically, death in infancy. A person must have two variants in the LAMB3 gene in order to have this condition.
Typical signs and symptoms
Fragile skin and mucous membranes
Severe blistering
Recurrent infections
Difficulty swallowing, speaking, and breathing
When symptoms develop
Symptoms of Herlitz JEB are typically present at birth.
How it's treated:
There is currently no known cure. Treatment focuses on protecting the skin, wound care, and managing infections and other complications.
What do we test?
3 variants in the LAMB3 gene.
This test does not include the majority of LAMB3 variants that cause LAMB3-related JEB in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include the majority of LAMB3 variants that cause LAMB3-related JEB in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Leigh Syndrome, French Canadian Typeand our test
LSFC is a rare genetic disorder. It is characterized by life-threatening periods of lactic acid buildup and brain injury as well as failure to gain weight. A person must have two variants in the LRPPRC gene in order to have this condition.
Typical signs and symptoms
Buildup of lactic acid in the body
Episodes of brain injury
Failure to gain weight
Poor muscle control and muscle spasms
Distinctive facial features
Early death
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on providing nutritional support, managing symptoms, and preventing complications.
What do we test?
1 variant in the LRPPRC gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Dand our test
LGMD2D is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the SGCA gene in order to have this condition.
Typical signs and symptoms
Wasting of arm and leg muscles closest to the torso
Large calf muscles
Curvature of the spine
Heart and lung problems
Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and adolescence.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the SGCA gene.
Symptoms can vary greatly in people with this condition, and can be mild in some cases.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is expected to identify the majority of carriers of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Eand our test
LGMD2E is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the SGCB gene in order to have this condition.
Typical signs and symptoms
Wasting of arm and leg muscles closest to the torso
Large calf muscles
Curvature of the spine
Heart and lung problems
Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and adolescence.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the SGCB gene.
Symptoms can vary greatly in people with this condition, and can be mild in some cases.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Southern Indiana Amish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Iand our test
LGMD2I is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the FKRP gene in order to have this condition.
Typical signs and symptoms
Wasting of arm and leg muscles closest to the torso
Heart and lung problems
Large calf muscles
Curvature of the spine
Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and early adulthood.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the FKRP gene.
Symptoms can vary greatly in people with this condition, and can be mild in some cases.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is expected to identify the majority of carriers of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: MCAD Deficiencyand our test
MCAD deficiency is a rare genetic disorder characterized by episodes of very low blood sugar while fasting or under stress. A person must have two variants in the ACADM gene in order to have this condition.
Typical signs and symptoms
Severely low blood sugar
Fatigue
Vomiting
Seizures
Liver problems
When symptoms develop
Symptoms typically develop during infancy or early childhood.
How it's treated:
There is currently no known cure. Early diagnosis, avoiding fasting, and making certain diet modifications can help limit symptoms and prevent complications.
What do we test?
4 variants in the ACADM gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Maple Syrup Urine Disease Type 1Band our test
MSUD 1B is a rare genetic disorder. It is characterized by poor growth and feeding, slowed mental and physical processes, and urine with a distinct, sweet odor. A person must have two variants in the BCKDHB gene in order to have this condition.
Typical signs and symptoms
Sweet-smelling urine
Poor feeding and growth
Lethargy
Developmental delay
Coma and death if untreated
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Strict diet management, and in some cases liver transplantation, may reduce symptoms and slow or stop disease progression.
What do we test?
2 variants in the BCKDHB gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American College of Obstetricians and Gynecologists (ACOG) notes that testing for maple syrup urine disease may be considered for people of Ashkenazi Jewish descent who are considering having children.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Mucolipidosis Type IVand our test
Mucolipidosis IV is a rare genetic disorder characterized by developmental delay and gradual vision loss in childhood. A person must have two variants in the MCOLN1 gene in order to have this condition.
Typical signs and symptoms
Developmental disability
Vision impairment that worsens over time
Decreased muscle tone
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the MCOLN1 gene.
Carrier testing for mucolipidosis IV is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG and does not include the second most common variant found in people of Ashkenazi Jewish descent.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
This test does not include the second most common variant found in people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Neuronal Ceroid Lipofuscinosis (CLN5-Related)and our test
CLN5-related NCL is a rare genetic disorder. It is characterized by seizures, vision loss, and intellectual disability. A person must have two variants in the CLN5 gene in order to have this form of NCL.
Typical signs and symptoms
Intellectual decline
Seizures
Loss of ability to control muscles
Muscle spasms
Vision loss leading to blindness
Shortened lifespan
When symptoms develop
Symptoms typically develop in early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing physical therapy, and using seizure medications as needed.
What do we test?
1 variant in the CLN5 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Neuronal Ceroid Lipofuscinosis (PPT1-Related)and our test
PPT1-related NCL is a rare genetic disorder. It is characterized by seizures, vision loss, and intellectual disability. A person must have two variants in the PPT1 gene in order to have this form of NCL.
Typical signs and symptoms
Intellectual decline
Seizures
Loss of ability to control muscles
Muscle spasms
Vision loss leading to blindness
Death in childhood
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing physical therapy, and using seizure medications as needed.
What do we test?
3 variants in the PPT1 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Niemann-Pick Disease Type Aand our test
Niemann-Pick disease type A is a rare genetic disorder. It is characterized by an enlarged liver and spleen, developmental disability, recurring lung infections, and early death. A person must have two variants in the SMPD1 gene in order to have this condition.
Typical signs and symptoms
Enlarged liver and spleen
Severe developmental disability
Recurring lung infections
Poor weight gain
Death in early childhood
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications through physical and occupational therapy.
What do we test?
3 variants in the SMPD1 gene.
Carrier testing for Niemann-Pick disease type A is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the three variants recommended for testing by ACMG.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Nijmegen Breakage Syndromeand our test
Nijmegen breakage syndrome is a rare genetic disorder. It is characterized by developmental delay, recurring infections, and an increased risk of cancer. A person must have two variants in the NBN gene in order to have this condition.
Typical signs and symptoms
Small head size
Developmental delay
Recurring infections
Increased risk for cancer
When symptoms develop
Symptoms typically develop before birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.
What do we test?
1 variant in the NBN gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is expected to identify the majority of carriers in people of Eastern European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)and our test
DFNB1 is an inherited condition characterized by mild to severe hearing loss that is present from birth. People with GJB2-related DFNB1 most often have two variants in the GJB2 gene.
Typical signs and symptoms
Mild to profound hearing loss at birth
When symptoms develop
Symptoms are typically present at birth.
How it's treated:
There is currently no known cure. Treatment options include hearing aids, cochlear implants, and educational programs for people with hearing loss.
What do we test?
2 variants in the GJB2 gene.
The severity of hearing loss can vary, but there are no other symptoms associated with this condition.
Most people with DFNB1 have two variants in the GJB2 gene. However, some people with the condition have one variant in the GJB2 gene and a second variant not tested (a deletion) in the GJB6 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish and European descent.
This test does not include the majority of GJB2 variants that cause DFNB1 in people of East Asian descent and does not include many of the GJB2 variants that cause DFNB1 in people of South Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)and our test
Pendred syndrome and DFNB4 are inherited conditions characterized by deafness and structural problems with the inner ear. Pendred syndrome is sometimes characterized by an enlarged thyroid. People with Pendred syndrome or DFNB4 most often have two variants in the SLC26A4 gene.
Typical signs and symptoms
Hearing loss at birth or in early childhood
Abnormal inner ear development
Enlarged thyroid
Poor balance
When symptoms develop
Symptoms typically develop at birth or during childhood.
How it's treated:
There is currently no known cure. Early intervention is recommended to teach alternative communication skills. Hearing aids or cochlear implants may treat hearing loss. Medication can treat low thyroid hormone levels.
What do we test?
6 variants in the SLC26A4 gene.
Symptoms of Pendred syndrome and DFNB4 vary in severity depending on which variants are causing the condition.
This test does not include a large fraction of SLC26A4 variants that cause Pendred syndrome or DFNB4 in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for these conditions.
Relevant ethnicities:
This test does not include a large fraction of SLC26A4 variants that cause Pendred syndrome or DFNB4 in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Phenylketonuria and Related Disordersand our test
PKU is part of a spectrum of related genetic disorders. These disorders are characterized by intellectual disability, seizures, and skin problems. A person must have two variants in the PAH gene in order to have one of these disorders.
Typical signs and symptoms
Intellectual disability
Seizures
Behavioral problems
Eczema
When symptoms develop
Symptoms typically develop soon after birth.
How it's treated:
There is currently no known cure. Diet management throughout life may help reduce common PKU symptoms. For some people, use of medication can prevent phenylalanine levels from becoming too high.
What do we test?
23 variants in the PAH gene.
PKU and related disorders can be managed with appropriate treatment.
Symptoms of these disorders vary in severity depending on which variants are causing the condition.
There are currently no professional guidelines in the U.S. for carrier testing for these conditions.
Relevant ethnicities:
This test is most relevant for people of Northern European descent, particularly those of Irish ancestry.
This test does not include a large fraction of PAH variants that cause PKU and related disorders in people of other ethnicities.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Pompe Diseaseand our test
Pompe disease is a rare genetic disorder caused by the buildup of glycogen, a storage form of glucose, in muscles and other tissues. It is characterized by progressive muscle weakness that can lead to heart, breathing, and mobility problems. The age of onset and severity of symptoms can vary widely. A person must have two different variants in the GAA gene, or two copies of the same variant, in order to have this condition.
Typical signs and symptoms
Symptoms can vary widely depending on age of onset and which GAA variants a person has. People with Pompe disease may experience:
Progressive muscle weakness
Movement issues, such as difficulty walking and exercise intolerance
Difficulties with breathing and swallowing
Enlarged heart (in infantile-onset type)
When symptoms develop
There are two types of Pompe disease that differ based on when symptoms develop and how certain organs are impacted. In infantile-onset Pompe disease (IOPD), symptoms including an enlarged heart develop prior to one year of age. In late-onset Pompe disease (LOPD), symptoms typically develop after one year of age and usually do not involve enlargement of the heart. In some cases, symptoms don't develop until mid-to-late adulthood.
How it's treated:
Individuals with Pompe disease may see a number of different medical specialists for appropriate evaluation and management. Learn more from the National Organization for Rare Disorders [https://rarediseases.org/rare-diseases/pompe-disease/].
What do we test?
5 variants in the GAA gene.
The severity of symptoms, and when they develop, can vary greatly in people with Pompe disease. For example, certain combinations of genetic variants, including two copies of the c.-32-13T>G variant included in this report, tend to be associated with milder symptoms and later disease onset. On the other hand, some combinations of genetic variants included in this report tend to be associated with faster progression and more severe symptoms.
The American College of Medical Genetics (ACMG) recommends that people of all ethnicities who are considering having children should be offered carrier screening for Pompe disease.
Relevant ethnicities:
This test includes variants that are most common in people of African/African American and European descent.
This test does not include the majority of GAA variants that cause Pompe disease in people of East Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Primary Hyperoxaluria Type 2and our test
PH2 is a rare genetic disorder. It is characterized by frequent kidney stones that can lead to kidney failure if left untreated. A person must have two variants in the GRHPR gene in order to have this condition.
Typical signs and symptoms
Frequent kidney stones
Kidney failure if untreated
When symptoms develop
Symptoms typically develop during childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing oxalate levels and hydration in order to slow the development of kidney disease. Kidney transplantation is considered in some cases.
What do we test?
1 variant in the GRHPR gene.
This test does not include a large fraction of GRHPR variants that cause PH2.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is expected to identify the majority of carriers in people of European descent.
This test does not include the most common variant found in people of Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Pyruvate Kinase Deficiencyand our test
Pyruvate kinase (PK) deficiency is a rare genetic disorder in which red blood cells break down too quickly, leading to chronic anemia. A person must have two variants in the PKLR gene, or two copies of a variant, in order to have this condition.
Typical signs and symptoms
Chronic anemia
Extreme fatigue and difficulty exercising
Jaundice (yellowing of the skin and eyes)
Cognitive difficulties such as difficulty concentrating
Enlarged spleen
Iron overload
Gallstones
When symptoms develop
Symptoms can develop anytime from before birth to adulthood and can vary from mild to severe. Symptoms may worsen with age.
How it's treated:
There is currently no known cure. Treatment depends on the severity of the symptoms and may include blood transfusions, medications to remove excess iron from the blood, and removal of the spleen and gallbladder. In newborns, phototherapy (light therapy) is often used to treat jaundice. Medications that increase the activity of the PK enzyme in red blood cells are also in development, as a way to treat the underlying cause of the condition.
What do we test?
1 variant in the PKLR gene.
Symptoms of PK deficiency may vary widely among people with the condition.
This test does not include the majority of PKLR variants that cause PK deficiency in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include the majority of PKLR variants that cause PK deficiency in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Rhizomelic Chondrodysplasia Punctata Type 1and our test
RCDP1 is a rare genetic disorder. It is characterized by bone abnormalities, cataracts, and intellectual disability. A person must have two variants in the PEX7 gene in order to have this condition.
Typical signs and symptoms
Skeletal problems
Childhood cataracts
Intellectual disability
Frequent lung infections
When symptoms develop
Symptoms are typically present at birth or develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through physical therapy. Treatment may include cataract removal.
What do we test?
1 variant in the PEX7 gene.
This test does not include a large fraction of PEX7 variants that cause RCDP1 in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include a large fraction of PEX7 variants that cause RCDP1 in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Salla Diseaseand our test
Salla disease is a rare genetic disorder. It is characterized by a gradual loss of muscle tone and coordination, as well as impaired growth, intellectual disability, and seizures. A person must have two variants in the SLC17A5 gene in order to have this condition.
Typical signs and symptoms
Intellectual disability
Loss of muscle tone and coordination over time
Seizures
When symptoms develop
Symptoms typically develop during infancy or childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing seizures and providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the SLC17A5 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Finnish and Swedish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Sickle Cell Anemiaand our test
Sickle cell anemia is a genetic disorder characterized by anemia, episodes of pain, and frequent infections. A person must have two HbS variants in the HBB gene in order to have this condition.
Typical signs and symptoms
Anemia
Fatigue
Episodes of pain
Frequent infections
Stroke
Injury to multiple organs
When symptoms develop
Symptoms typically develop by early childhood.
How it's treated:
Treatment focuses on managing pain and preventing complications. Certain medications or blood transfusions may improve symptoms.
What do we test?
1 variant in the HBB gene.
Carrier screening for hemoglobinopathies such as sickle cell anemia is recommended by the American Congress of Obstetricians and Gynecologists (ACOG) via complete blood count and hemoglobin electrophoresis for people of African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian descent considering having children.
Relevant ethnicities:
This test is most relevant for people of African descent, because the HbS variant is most common in people with African ancestry.
In addition, because this test covers the only variant that causes sickle cell anemia, it is also relevant for other ethnicities in which the HbS variant is found, including people of Middle Eastern and South Asian descent, as well as people from the Caribbean, the Mediterranean, and parts of Central and South America.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Sjögren-Larsson Syndromeand our test
Sjögren-Larsson syndrome is a rare genetic disorder. It is characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. A person must have two variants in the ALDH3A2 gene in order to have this condition.
Typical signs and symptoms
Dry scaly skin
Persistent muscle stiffness
Intellectual disability
When symptoms develop
Symptoms typically develop in infancy or early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech and physical therapy as well as skin care.
What do we test?
1 variant in the ALDH3A2 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of Swedish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Tay-Sachs Diseaseand our test
Tay-Sachs disease is a rare genetic disorder. It is characterized by a loss of strength and coordination over time as well as developmental disability, seizures, and early death. A person must have two variants in the HEXA gene in order to have this condition.
Typical signs and symptoms
Loss of strength and coordination that worsens over time
Severe developmental disability
Vision loss
Seizures
Death in early childhood in severe cases
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing nutritional support, and using seizure medications as needed.
What do we test?
4 variants in the HEXA gene.
Symptoms of this disorder vary in severity depending on which variants are causing the condition.
Carrier testing for Tay-Sachs disease is recommended by the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) for people of Ashkenazi Jewish descent considering having children. This test includes the three variants recommended for testing by ACMG. In addition, ACOG recommends offering carrier testing for Tay-Sachs disease to individuals of Cajun and French Canadian descent who are considering having children.
When carrier testing for Tay-Sachs disease is indicated in people who are not of Ashkenazi Jewish descent, ACMG recommends biochemical carrier screening as a first step. Genetic testing can then be used to confirm carrier status in people with a positive result.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish and Cajun descent.
This test does not include the most common variant found in people of French Canadian descent with Tay-Sachs disease.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Tyrosinemia Type Iand our test
Tyrosinemia type I is a rare genetic disorder. It is characterized by high levels of the amino acid tyrosine that can lead to liver and kidney disease. A person must have two variants in the FAH gene in order to have tyrosinemia type I.
Typical signs and symptoms
High levels of tyrosine in the blood
Liver and kidney problems
Growth delay
Episodes of pain, weakness, and mental distress
Increased risk of liver cancer
When symptoms develop
Symptoms typically develop during infancy or in childhood.
How it's treated:
There is currently no known cure. Medication and a low protein diet may decrease liver and kidney damage. Liver transplantation is considered in some cases.
What do we test?
4 variants in the FAH gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test is most relevant for people of French Canadian and Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Usher Syndrome Type 1Fand our test
Usher 1F is a rare genetic disorder. It is characterized by deafness at birth, poor balance, and vision loss that worsens over time. A person must have two variants in the PCDH15 gene in order to have this condition.
Typical signs and symptoms
Deafness in both ears at birth
Loss of vision beginning in childhood
Poor balance
Delays in walking
When symptoms develop
Symptoms typically develop at birth.
How it's treated:
There is currently no known cure. Deafness may be treated with cochlear implants. Vision loss may be monitored with routine eye exams. Early intervention is recommended to teach alternative communication skills.
What do we test?
1 variant in the PCDH15 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American College of Obstetricians and Gynecologists (ACOG) notes that testing for Usher syndrome may be considered for people of Ashkenazi Jewish descent who are considering having children.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Usher Syndrome Type 3Aand our test
Usher 3A is a rare genetic disorder. It is characterized by hearing and vision loss that begins in late childhood and worsens over time. A person must have two variants in the CLRN1 gene in order to have this condition.
Typical signs and symptoms
Hearing loss in childhood or early teens
Gradual vision loss
Night blindness by mid-teens
Blindness by mid-adulthood
When symptoms develop
Symptoms typically develop during late childhood or adolescence.
How it's treated:
There is currently no known cure. Hearing loss may be treated with hearing aids. Vision loss may be monitored with routine eye exams. Early intervention is recommended to teach alternative communication skills.
What do we test?
1 variant in the CLRN1 gene.
There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American College of Obstetricians and Gynecologists (ACOG) notes that testing for Usher syndrome may be considered for people of Ashkenazi Jewish descent who are considering having children.
Relevant ethnicities:
This test is most relevant for people of Ashkenazi Jewish descent.
This test does not include variants commonly found in people of Finnish descent with Usher 3A.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
What to know about: Zellweger Spectrum Disorder (PEX1-Related)and our test
ZSS is a group of rare genetic disorders. The form of ZSS covered by this report is characterized by impaired hearing, vision, and organ function, as well as developmental disability and early death. A person must have two variants in the PEX1 gene in order to have this form of ZSS.
Typical signs and symptoms
Decreased muscle tone
Seizures
Failure to gain weight
Impaired vision and hearing
Developmental disability
Early death (severe form)
When symptoms develop
Symptoms are typically present at birth or develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.
What do we test?
1 variant in the PEX1 gene.
This test does not include the majority of PEX1 variants that cause ZSS in any ethnicity.
There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
This test does not include the majority of PEX1 variants that cause ZSS in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing.
Greater than 99% of test results were correct. While unlikely, this test may provide false
positive or false negative results. For more details on the analytical performance of this
test, refer to the package insert.
The Amish are a group of people residing mainly in the central regions of the United States.
Descended from Swiss and German ancestors, the group is defined by religious and cultural
practices, including strong church membership and limits on the use of technology.
Those who trace their roots to Jewish settlers in Central and Eastern Europe during the Middle
Ages.
North African Berbers are people of mixed Arab and Berber origin. They live in communities across the North African Maghreb region, which includes the countries of Tunisia, Morocco, Algeria, and Libya.
Test Examples
Relevant Ethnicities
Bloom Syndrome
Ashkenazi Jewish
Sickle Cell Anemia
African
Tay-Sachs Disease
Ashkenazi Jewish, Cajun
People with Sephardic (or Sephardi) Jewish ancestry can trace their roots back to Jews who settled in Spain and
Portugal.
Changing your location to a region outside the EU may impact how your information is processed. Keep in mind EU data protection laws may no longer apply.
Our product is available in English only, and due to the applicable regulations it may only be ordered by customers with shipping addresses in the following countries. If your country is not listed, please visit the International site. (or please visit 23andMe's International site.)
