Carrier Test Page
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What is Tay-Sachs Disease?
Tay-Sachs disease (TSD) is an inherited disorder caused by deficiency of Hexosaminidase A enzyme. This enzyme is necessary to break down fatty substances in the cells of the nervous system. Accumulation of these fatty substances causes the brain and spinal cord nerve cells to malfunction. Children with TSD have normal development until about 6 months of age at which time they present with loss of motor skills, decreased attentiveness, and increased startle response. As the disease progresses, children with TSD develop deafness, blindness, paralysis, seizures, and death usually occurs by age 3-4 years. There is no treatment available for TSD. In addition to TSD other forms of Hexosaminidase A deficiencies exist. They include the juvenile (subacute), chronic, and adult onset disease. These tend to have later onset, slower course, and variable neurologic outcome. TSD is caused by pathogenic variants in the HEXA gene.
How is Tay-Sachs Disease inherited?
TSD is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are no signs or symptoms associated with being a carrier for TSD. However, the risk to have a child affected with TSD is increased. Testing of reproductive partners is recommended for carriers of TSD.
How common is Tay-Sachs Disease?
What is analysed?
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||> 99%||1 in 250|