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Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)
APCDD1, AR, CDH3, CDSN, CREBBP, DHX30, DHX40, DSG4, EDA, EDAR, EDARADD, GJB2, GJB6, GRHL2, HOXC13, HR, IKBKG, KRT14, KRT25, KRT71, KRT74, KRT81, KRT83, KRT85, LIPH, LPAR6, MBTPS2, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, PKP1, PORCN, RMRP, RSPO4, SDR9C7, SN
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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, Pediatrics


CGC Reference

- 5649




Associated Tests


Hypotrichosis (NGS panel for 10 genes)
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis on EDA, EDAR, EDARADD and WNT10A genes)
Palmoplantar keratoderma and erythrokeratodermia (WES based NGS panel of 44 genes, including CNV analysis)
Syndromic combined immunodeficiencies (ICDs) or with associated symptoms (WES based NGS panel of 63 genes, including CNV analysis)
CID with associated or syndromic features – All subtypes (NGS panel of 46 genes and deletion of 22q11.2 by MLPA)