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Limb-girdle muscular dystrophies (NGS panel of 42 genes)
ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, TCAP, TRAPPC11, TRIM32, VCP, BVES, DAG1, DES, GNE, ISPD, LIMS2, POMGNT2, POMK, S
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Methodology

NGS


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)

- 45

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5171




Associated Tests


Congenital muscular dystrophies (NGS panel for 31 genes)
Congenital muscular dystrophies (WES based NGS panel of 46 genes, including CNV analysis)
Rhabdomyolysis and metabolic muscle diseases (NGS panel of 55 genes)
Hypertrophic cardiomyopathy (WES based NGS panel of 68 genes, including CNV analysis)
Dilated cardiomyopathy (WES based NGS panel of 81 genes, including CNV analysis)