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Bethlem myopathy | Congenital muscular dystrophy, Ullrich type (deletion/duplication analysis of COL12A1 gene)
COL12A1
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Methodology

Real-time quantitative PCR (RT-qPCR)


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)

- 60

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5562




Associated Tests


Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Congenital muscular dystrophies (WES based NGS panel of 46 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)
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)