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Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A1 gene)
COL1A1
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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

- Cardiology, Dermatology, Rare diseases


CGC Reference

- 4181




Associated Tests


Osteogenesis imperfecta (deletion/duplication analysis on COL1A1 gene)
Primary Hypertrophic Osteoarthropathy (NGS panel of 22 genes)
Osteogenesis imperfecta, type 1, 2, 3 and 4 | Ehlers-Danlos syndrome | Caffey disease (sequence analysis of COL1A1 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)