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Waardenburg syndrome type 4 (sequence analysis of SOX10 gene)
SOX10
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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

- 572




Associated Tests


Waardenburg syndrome types 1 and 3 (deletion/duplication analysis on PAX3, MITF and SOX10 genes)
Waardenburg syndrome (deletion/duplication analysis of SOX10 and EDNRB genes)
Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)
Waardenburg syndrome (NGS panel of 7 genes)