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Bethlem myopathy (deletion/duplicaion analysis of COL6A1 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, Dysmorphology

CGC Reference

- 4316

Associated Tests

Ullrich congenital muscular dystrophy (NGS panel for 3 genes)
Ullrich congenital muscular dystrophy (sequence analysis of COL6A1 gene)
Congenital muscular dystrophies (NGS panel for 31 genes)
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)