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Epidermolysis bullosa simplex with muscular dystrophy (deletion / duplication in the PLEC gene)
PLEC
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Methodology
Real-time quantitative PCR (RT-qPCR)
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
- Dermatology, Rare diseases, Neurology / Neuropediatrics
CGC Reference
- 4707
Associated Tests
Myasthenic syndrome, congenital (NGS panel for 17 genes)
Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
Epidermolysis bullosa simplex with muscular dystrophy (sequence analysis of PLEC gene)
Epidermolysis bullosa (NGS panel of 23 genes)