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Waardenburg syndrome type 2 (sequence analysis of MITF gene)
MITF
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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
Specialties
- Dermatology, Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 265
Associated Tests
Waardenburg syndrome types 1 and 3 (deletion/duplication analysis on PAX3, MITF and SOX10 genes)
Melanoma (NGS panel of 5 genes)
Waardenburg syndrome (NGS panel of 7 genes)
Albinism (NGS panel of 12 genes)
Microphthalmia (NGS panel of 26 genes)