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Becker/Duchenne muscular dystrophy (DMD, deletion/duplication analysis on DMD gene)
DMD
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Methodology

Deletion/duplication analysis by MLPA


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
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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

- 81161

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 557




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)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
Mental retardation, X-linked (NGS panel for 89 genes)