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Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene)
CDH3
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Methodology

Real-time quantitative PCR (RT-qPCR)


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, Dysmorphology


CGC Reference

- 4526




Associated Tests


Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene)
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence 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)