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Emery-Dreifuss muscular dystrophy type 7, AD (sequence analysis of TMEM43 gene)
TMEM43
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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

CPT Codes

- 81406

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 2034




Associated Tests


Congenital muscular dystrophies (NGS panel for 31 genes)
Arrhythmogenic right ventricular dysplasia (NGS panel of 15 genes)