Tay-Sachs Disease via the French Canadian Deletion in the HEXA Gene
Use
This test is intended for individuals who have had previous genetic testing that was negative or detected a single variant associated with autosomal recessive disease in the relevant gene, where clinical suspicion is high for disease caused by that particular gene. It is also suitable for family members of patients who have tested positive for one of these particular deletions/duplications/inversions. The test specifically targets the known French Canadian deletion mutation in the HEXA gene associated with Tay-Sachs Disease, providing a focused approach to diagnosis and carrier testing in individuals of French Canadian descent.
Special Instructions
Not provided.
Limitations
This targeted PCR test only detects the specific French Canadian deletion within the HEXA gene and will not identify other mutations or deletions in HEXA or other genes. Negative results do not exclude the presence of other genetic causes for Tay-Sachs Disease or related conditions. Results should be interpreted in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Collect in standard blood collection tubes. Ensure proper labeling and secure transport to the lab.
Storage Instructions
Store and transport at room temperature. Avoid freezing.
Causes for Rejection
Mislabeled or unlabeled specimens; hemolyzed samples.