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Ectrodactyly (WES based NGS panel of 10 genes, including CNV analysis)
BHLHA9, CDH3, DLX5, DLX6, FGF8, FGFR1, SALL4, SEM1, TP63, WNT10B
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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

- Rare diseases, Pediatrics


CGC Reference

- 5321




Associated Tests


Hypogonadotropic hypogonadism (NGS panel of 26 genes)
Limb reduction defects (WES based NGS panel of 143 genes, including CNV analysis)
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
Rapp-Hodgkin syndrome (sequence analysis of TP63 gene)
Ectodermal dysplasia and ectrodactyly (sequence analysis of TP63 gene)