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Limb-girdle muscular dystrophy type 2B (2 mutations on DYSF gene)
DYSF
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Methodology

Sanger sequencing


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

CPT Codes

- 81408

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 1313




Associated Tests


Limb-girdle muscular dystrophy type 2B (LGMD2B, sequence analysis of DYSF gene)
Miyoshi muscular dystrophy 1 (sequence analysis of DYSF gene)
Congenital muscular dystrophies (NGS panel for 31 genes)
Miyoshi muscular dystrophy 1 (deletion/duplication analysis of DYSF gene)
Limb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene)