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Usher syndrome type 1B (deletion/duplication analysis on MYO7A gene)
MYO7A
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Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
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)

- 60

Specialties

- Rare diseases, Ophthalmology, Otorhinolaryngology, Pediatrics


CGC Reference

- 3419




Associated Tests


Usher syndrome type 1B (sequence analysis of MYO7A gene)
Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)