QHerit helps you understand your child’s risk for serious genetic disorders

Using industry-leading technology, QHerit checks for 22 genetic disorders—ones that could play an important role in your baby’s health. Getting tested can help you plan for the best outcome. The impact of these disorders on your child could include:

  • Complex, lifelong care
  • An early death
  • Medical intervention

QHerit tests for these disorders:

Alpha-Thalassemia

Alpha-thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues of the body). It includes a number of different forms of anemia. The severity and type of anemia depend upon the number of alpha globin genes that are affected.

Beta-Hemoglobinopathies (including Sickle Cell Disease)

Patients with beta globin mutations may produce less hemoglobin than normal and, as a result, suffer from severe anemia, known as Beta-thalassemia.

Bloom Syndrome

Affected individuals typically have growth failure, facial erythemas (facial redness), immunodeficiency (when the body cannot fight infections normally), and early malignancies (cancers).

Canavan Disease

The disease is characterized by the progressive loss of white matter in the brain. Clinical features include intellectual disability, megaloencephaly (abnormally large brain size), hypotonia (decreased muscle strength), and early death.

Cystic Fibrosis (CF)

Cystic fibrosis is a chronic disorder that primarily involves the respiratory, digestive, and reproductive systems.

Dihydrolipoamide Dehydrogenase Deficiency (DLD Deficiency)

DLD Deficiency is a rare disease resulting in hypotonia (decreased muscle strength), poor feeding, vomiting, metabolic abnormalities, growth deficiencies, and neurological deficits that include intellectual disability, spasticity (muscle stiffness), and seizures.

Familial Dysautonomia (FD)

FD is a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. Individuals affected with FD display a variety of symptoms, including decreased sensitivity to pain and temperature, cardiovascular instability (abnormal heart beat), recurrent pneumonias (repeated lung infections), vomiting, and gastrointestinal dysfunction (problems with feeding and digestion).

Familial Hyperinsulinism

Familial hyperinsulinism is an inherited condition that causes overproduction of insulin, which can lead to low blood sugar. Symptoms can include seizures, hypotonia (decreased muscle strength), poor feeding, breathing difficulties, and intellectual disability may occur.

Fanconi Anemia Type C

Fanconia anemia (FA) is a blood disorder characterized by bone marrow failure, congenital birth defects, chromosomal instability, and an increased risk of cancer.

Fragile X Syndrome

Fragile X is the most common inherited cause of intellectual disability.

Gaucher Disease

Gaucher disease is characterized by deficient activity of the lysosomal enzyme glucosylceramidase, which leads to the progressive accumulation of a fatty substance, glucocerebroside, in “Gaucher cells.” Symptoms include bone disease, hepatosplenomegaly (enlarged liver and spleen), anemia and thrombocytopenia (low blood platelet count), lung disease, and the absence (Type 1) or presence (Types 2 and 3) of primary central nervous system disease.

Glycogen Storage Disease Type 1a

Glycogen storage disease results in severe hypoglycemia (low blood sugar) and liver and kidney problems.

Joubert Syndrome 2

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis, an area of the brain that controls balance and coordination. The disease is characterized by hypotonia (decreased muscle strength), ataxia (muscle movements like walking and swallowing cannot be controlled), polydactyly (extra fingers), and retinal and renal degeneration.

Maple Syrup Urine Disease (MSUD)

MSUD is caused by a deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase, which leads to the inability to break down the branched-chain amino acids leucine, isoleucine, and valine. Symptoms can include vomiting, lethargy (lack of energy), hypotonia (decreased muscle strength), and seizures.

Mucolipidosis Type IV

The disease is characterized by psychomotor retardation, and ophthalmologic (eye) abnormalities that include corneal opacities (eye clouding) and retinal degeneration (vision loss).

Nemaline Myopathy

Nemaline myopathy is a disorder that causes muscle weakness throughout the body, most severe in the neck, face, arms, and legs. This weakness may result in difficulties with feeding, breathing, and speech, and in delayed motor milestones such as walking.

Niemann-Pick Disease (NPD) Types A & B

NPD is characterized by hepatosplenomegaly (enlarged liver and spleen), psychomotor retardation, and progressive neurodegeneration (infantile, neuronopathic form, Type A, which involves damage to the neurons), or organomegaly (abnormally enlarged organs) and reduced pulmonary (lung) function, with no accompanying neurological symptoms (non-neuronopathic form, Type B, which does not involve damage to the neurons).

Spinal Muscular Atrophy (SMA)

SMA is an inherited disease characterized by progressive muscle weakness. It is the second most common lethal autosomal recessive disorder affecting 1 in every 6,000-10,000 live births.

Tay-Sachs Disease

This disease results from hexosaminidase A deficiency and is characterized by the onset in infancy of developmental delay, paralysis, dementia, blindness, and death in the second or third year of life. Juvenile and adult-onset variants of Tay-Sachs disease have a slower progression, and more variable neurological findings.

Usher Syndrome Type 1F

Usher syndrome type 1F is characterized by profound deafness (sensorineural) from birth and progressive loss of vision beginning in adolescence due to retinitis pigmentosa (a degenerative eye disease).

Usher Syndrome Type IIIA

Usher syndrome type IIIA is characterized by vision and hearing loss that begins in late childhood and worsens over time.

Walker-Warburg Syndrome

This disorder affects the development of the brain, muscles, and eyes, causing significant delayed development, seizures, worsening muscle weakness, feeding difficulties, and vision impairment including blindness. Life expectancy is generally less than 3 years of age.

What you should know

Expanded carrier screening tests have some limitations. Disease prevalence, variant frequencies, detection rates, and residual risk estimates are not always 100% accurate for any tests. A negative screening result cannot rule out the possibility of the disease occurring.

QHerit may not identify all of the genetic risks that you face as parents. Even if QHerit is negative for the above genes, there is still some risk that your child may be born with special needs.