Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication
Also known as: HEXA NGS
Use
The Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication test is used for carrier screening or diagnostic testing for Tay-Sachs disease, particularly in individuals with a high risk due to ethnic background such as Ashkenazi Jewish or French-Canadian ancestry. The test identifies pathogenic variants in the HEXA gene which are associated with Tay-Sachs disease, a genetically inherited condition leading to HEXA enzyme deficiency. This deficiency results in neuronal deterioration and intellectual disability, with severity influenced by the specific genetic variants present.
Special Instructions
Not provided.
Limitations
The test detects variants only within or overlapping the coding regions and intron-exon boundaries of the HEXA gene. Certain variant types such as regulatory region variants and deep intronic variants are not identified by this assay. The 7.6kb deletion common in French-Canadian populations is detected, but with lower sensitivity. Single exon deletions and duplications, as well as precise breakpoints for large deletions or duplications, are not consistently determined. The test does not analyze noncoding transcripts and is not intended for detecting low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions.
Methodology
NGS
Biomarkers
HEXA
Gene
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD Solution A or B)
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush or swab, FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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