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Usher syndrome type 1D/F (deletion/duplication analysis on PCDH15 gene)
PCDH15
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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)
- 30
Specialties
- Rare diseases, Ophthalmology, Otorhinolaryngology, Pediatrics
CGC Reference
- 4655
Associated Tests
Usher syndrome type 1D/F (sequence analysis of PCDH15 gene)
Deafness, autosomal recessive 23 (sequence analysis of PCDH15 gene)
Ashkenazi panel (NGS panel of 26 genes)
Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)