Tay‑Sachs Disease Mutation Analysis
Use
This test analyzes mutations associated with Tay‑Sachs disease, an autosomal recessive neurodegenerative disorder, to identify carrier status or affected individuals. Results can inform reproductive decision making and diagnostic evaluation.
Special Instructions
For fetal testing, contact 1‑866‑GENE‑INFO (1‑866‑436‑3463) prior to submission. Documentation of parental carrier status and a maternal cell contamination study (STR analysis) with a separate maternal blood EDTA tube is required for prenatal specimens.
Limitations
Specimen stability is crucial—whole blood, amniotic fluid, amniocyte/CVS cultures, and dissected CVS biopsies must be stored and shipped at room temperature; refrigeration or freezing is unacceptable. Fetal specimens must be accompanied by parental carrier documentation and maternal contamination controls.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA (royal blue‑top), ACD (yellow‑top), sodium or lithium heparin (green‑top) tube
Collection Instructions
Whole blood collected in specified tube; do not freeze; forward to laboratory immediately
Storage Instructions
Store and ship at room temperature immediately. Do not refrigerate or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |