my CGC
< Back to results
 
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene)
COL1A2
Request Now


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

- 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)