General Data Protection Regulation Compliance

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.
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 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 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. 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 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. 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 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.
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.
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.
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 Disease and 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 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.
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 Deficiency and 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 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.
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.
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. 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 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. 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.

Test Examples		Relevant Ethnicities
Bloom Syndrome		Ashkenazi Jewish
Sickle Cell Anemia		African
Tay-Sachs Disease		Ashkenazi Jewish, Cajun

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