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Waardenburg syndrome type 4B | Congenital central hypoventilation syndrome (deletion/duplication analysis on EDN3)
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)
- 30
Specialties
- Dermatology, Rare diseases, Neurology / Neuropediatrics, Otorhinolaryngology, Pediatrics, Dysmorphology
CGC Reference
- 4983
Associated Tests
Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes)
Waardenburg syndrome type 4B (sequence analysis of EDN3 gene)
Hirschsprung disease (sequence analysis of EDN3 gene)
Waardenburg syndrome (NGS panel of 7 genes)
Pulmonary fibrosis, family (NGS panel of 71 genes)