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Pheochromocytomas (NGS panel for 3 genes)
VHL, SDHD, SDHB
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Methodology

NGS


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, Nephrology, Oncology


CGC Reference

- 4029




Associated Tests


Pheochromocytoma and paraganglioma (NGS panel of 17 genes)
Paragangliomas 1,3 and 4 (deletion/duplication analysis on SDHD, SDHC and SDHB genes)
Kidney cancer (NGS panel of 6 genes)
Hereditary non medullary thyroid carcinoma (WES based NGS panel of 26 genes, including CNV analysis)
GIST [detection of somatic mutations: KIT (exons 8 - 11, 13, 17 and 18), PDGFRA (exons 12, 14 and 18), BRAF (V600), CBL (exons 8 and 9), SDHA (whole coding region), SDHB (whole coding region), SDHC (whole coding region) and SDHD (whole coding region)]