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

- 60


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 5562

Associated Tests

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel for 77 genes, including CNV analysis)
Myopathies, including congenital myopathies (WES based NGS panel for 180 genes, including CNV analysis)