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Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene)
TP63
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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, Pediatrics


CGC Reference

- 4538




Associated Tests


Rapp-Hodgkin syndrome (sequence analysis of TP63 gene)
Ectodermal dysplasia and ectrodactyly (sequence analysis of TP63 gene)
ADULT syndrome (sequencing of the TP63 gene)
Ectrodactyly (WES based NGS panel of 10 genes, including CNV analysis)