ARSACS Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal Recessive Polycystic Kidney Disease Beta Thalassemia and Related Hemoglobinopathies Bloom Syndrome Canavan Disease Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi Anemia Group C GRACILE Syndrome Gaucher Disease Type 1 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian Type Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type 2E Limb-Girdle Muscular Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis (CLN5-Related) Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick Disease Type A Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria Type 2 Rhizomelic Chondrodysplasia Punctata Type 1 Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Syndrome Spectrum (PEX1-Related)

ARSACS Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal Recessive Polycystic Kidney Disease Beta Thalassemia and Related Hemoglobinopathies Bloom Syndrome Canavan Disease Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi Anemia Group C GRACILE Syndrome Gaucher Disease Type 1 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian Type Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type 2E Limb-Girdle Muscular Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis (CLN5-Related) Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick Disease Type A Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria Type 2 Rhizomelic Chondrodysplasia Punctata Type 1 Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Syndrome Spectrum (PEX1-Related)

What to know about:

ARSACS and our test 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 Neuropathy and 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 Disease and 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 Hemoglobinopathies and 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 Syndrome and 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 Disease and 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.

and 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 Fibrosis and 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 Deficiency and 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 Deficiency and 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 Dysautonomia and 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 IKBKAP 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 IKBKAP 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 Congress 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 Fever and 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 C and 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 Syndrome and 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 1 and 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 Ia and 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. 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 Ib and 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 Intolerance and 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 Type and 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 2D and 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 2E and 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 2I and 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 Deficiency and 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 1B and 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. 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 IV and 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.

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 A and 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 Syndrome and 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.

and 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 Disorders and 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.

descent, particularly those of 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:

Primary Hyperoxaluria Type 2 and 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.

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:

Rhizomelic Chondrodysplasia Punctata Type 1 and 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 Disease and 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 Anemia and 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.

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 Syndrome and 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 Disease and 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.

and 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 I and 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 1F and 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. 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 3A and 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. Relevant ethnicities: This test is most relevant for people of Ashkenazi Jewish descent.

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.