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Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)
ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CHKB, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJB2, GJB3, GJB4, GTF2E2, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, PEX7, PHYH, PIGA, PIGL, PN
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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
- Dermatology, Rare diseases
CGC Reference
- 5021
Associated Tests
Palmoplantar keratoderma and erythrokeratodermia (WES based NGS panel of 44 genes, including CNV analysis)
Trichothiodystrophy (NGS panel of 5 genes)
Congenital deafness (deletion/duplication analysis on GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)
Xeroderma pigmentosum disease (NGS panel for 8 genes)