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Bethlem myopathy (deletion/duplication analysis of COL6A3 gene)
COL6A3
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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, Dysmorphology


CGC Reference

- 4318




Associated Tests


Ullrich congenital muscular dystrophy (NGS panel for 3 genes)
Ullrich congenital muscular dystrophy (sequence analysis of COL6A3 gene)
Congenital muscular dystrophies (NGS panel for 31 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Congenital muscular dystrophies (WES based NGS panel of 46 genes, including CNV analysis)