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Usher syndrome type 1D/F (sequence analysis of CDH23 gene)
CDH23
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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
- 3112
Associated Tests
Retinitis pigmentosa (WES based NGS panel for 190 gene, including CNV analysis)
Genetic deafness (WES based NGS panel for 226 genes, including CNV analysis)
Deafness, autosomal recessive 12 | Usher syndrome, type 1D | Usher syndrome, type 1D/F digenic (deletion/duplication analysis of CDH23 gene)
Síndrome de Usher (WES based NGS panel of 13 genes, including CNV analysis)