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Acrofacial dysostosis, Weyers type (sequence analysis of 22 exon of EVC2 gene)
EVC2
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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)
- 30
Specialties
- Cardiology, Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 4266
Associated Tests
Ellis Van Creveld syndrome (sequence analysis of EVC2 gene)
Weyers acrodental dysostosis (sequence analysis 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 144 genes, including CNV analysis)