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Usher syndrome type 3B (sequence analysis of HARS gene)
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Sanger sequencing

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)

- 60


- Rare diseases, Ophthalmology, Otorhinolaryngology, Pediatrics

CGC Reference

- 4666

Associated Tests

Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)
Perrault syndrome 2 (PRLTS2, sequence analysis of HARS2 gene)
Premature ovarian failure (NGS panel of 47 genes)