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Epidermolysis bullosa simplex with muscular dystrophy (sequence analysis of PLEC gene)
PLEC
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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

- Dermatology, Rare diseases, Pediatrics


CGC Reference

- 5431




Associated Tests


Myasthenic syndrome, congenital (NGS panel for 17 genes)
Epidermolysis bullosa simplex with muscular dystrophy (deletion / duplication in the PLEC gene)
Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
Epidermolysis bullosa (NGS panel of 23 genes)