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Tay-Sachs disease (deletion/duplication analysis of HEXA gene)
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Deletion/duplication analysis by MLPA

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 30


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 4524

Associated Tests

Tay-Sachs disease (sequence analysis of HEXA gene)
Ashkenazi panel (NGS panel of 26 genes)
Spinal muscular atrophy (WES based NGS panel of 29 genes, including CNV analysis)