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Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes)
EDNRB, EDN3
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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
CPT Codes
- 81479 (x2)
Specialties
- Dermatology, Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 2099
Associated Tests
Waardenburg syndrome (NGS panel of 7 genes)
Waardenburg syndrome type 4A (sequence analysis of EDNRB gene)
Waardenburg syndrome type 4B (sequence analysis of EDN3 gene)
Hirschsprung disease (sequence analysis of EDNRB gene)
Hirschsprung disease (sequence analysis of EDN3 gene)