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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)