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Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene)
CAPN3
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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

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 4648




Associated Tests


Limb-girdle muscular dystrophy 2A (LGMD2A, sequence analysis of CAPN3 gene)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
Myopathies, including congenital myopathies (WES based NGS panel for 180 genes, including CNV analysis)