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Ellis Van Creveld syndrome (sequence analysis of EVC2 gene)
EVC2
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Methodology

Sanger sequencing


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

CPT Codes

- 81479

Specialties

- 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)