- Hexosaminidase A deficiency
- HEXA deficiency
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
Tay-Sachs disease (TSD) is characterized by progressive weakness and loss of motor skills beginning between three and six months of age. Over time, signs of progressive neurodegeneration occur, such as seizures, blindness, and paralysis, usually leading to death before the age of four. TSD is caused by a deficiency of the enzyme hexosaminidase-A (Hex-A). Deficiency of the Hex-A enzyme can also be identified by biochemical enzyme tests. TSD is an AR disorder caused by mutations in the HEXA gene, located on chromosome 15 (15q23-q24). Three mutations in the HEXA gene account for more than 99% of the mutations seen in AJ individuals affected with TSD. TSD is also seen at a comparable frequency in other ethnic groups including French Canadians and Cajuns. Two mutations that are seen more frequently in the French Canadian population are also screened for as part of this panel.
See related information sheet: Ashkenazi Jewish Screening Panel
Tay-Sachs Disease (part of the Ashkenazi Jewish screening panel)
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