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Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene)
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Deletion/duplication analysis by MLPA

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)

- 30


- Cardiology, Dermatology, Rare diseases

CGC Reference

- 4182

Associated Tests

Deletion/duplication analysis on COL1A2 gene
Osteogenesis imperfecta (deletion/duplication analysis of COL1A2 gene)
Osteogenesis imperfecta type 2, 3 and 4 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | Ehlers-Danlos syndrome, cardiac valvular type (sequence analysis of COL1A2 gene)
Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)