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Emery-Dreifuss muscular dystrophy (sequence analysis of LMNA gene)
LMNA
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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)

- 60

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 647




Associated Tests


Sequence analysis of LMNA gene (lamin A/C)
Left ventricular noncompaction (LVNC, NGS panel of 13 genes)
LMNA gene (deletion/duplication analysis)
Congenital muscular dystrophies (NGS panel for 31 genes)
Charcot-Marie-Tooth disease (NGS panel of 43 genes)