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Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene)
CDH3
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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, Ophthalmology, Pediatrics


CGC Reference

- 3149




Associated Tests


Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene)
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene)
Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene)
Ectrodactyly (WES based NGS panel of 10 genes, including CNV analysis)
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)