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Ellis Van Creveld syndrome (deletion/duplication analysis of EVC and EVC2 genes)
EVC, EVC2
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Methodology

Deletion/duplication analysis by MLPA


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

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5705




Associated Tests


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