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Ellis Van Creveld syndrome (sequence analysis of EVC2 gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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

CPT Codes

- 81479


- Cardiology, Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 718

Associated Tests

Weyers acrodental dysostosis (sequence analysis of EVC2 gene)
Acrofacial dysostosis, Weyers type (sequence analysis of 22 exon of EVC2 gene)
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel of 16 genes)
Ellis Van Creveld syndrome (NGS panel of 12 genes)
Limb reduction defects (WES based NGS panel of 143 genes, including CNV analysis)