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Ellis Van Creveld syndrome (NGS panel of 12 genes)
DYNC2H1, EVC, EVC2, IFT140, IFT172, IFT80, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
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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)

- 45

Specialties

- Cardiology, Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5234




Associated Tests


Short-rib thoracic dysplasia, with or without polydactyly (NGS panel of 16 genes)
Asphyxiating thoracic dystrophy (sequence analysis of DYNC2H1 and IFT80 genes)
Nephronophthisis (NGS panel of 19 genes)
Cranioectodermal dysplasia (NGS panel of 4 genes)
Limb reduction defects (WES based NGS panel of 143 genes, including CNV analysis)