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Epidermolysis bullosa (NGS panel of 23 genes)
CD151, COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5
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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

- 5470




Associated Tests


Palmoplantar keratoderma and erythrokeratodermia (WES based NGS panel of 44 genes, including CNV analysis)
Epidermolysis bullosa dystrophica (NGS panel for 2 genes)
Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes)
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes)
Arrhythmogenic right ventricular dysplasia (NGS panel of 15 genes)