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Walker-Warburg syndrome (sequence analysis of POMT2 gene)
POMT2
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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 |
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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
- 684
Associated Tests
Congenital muscular dystrophies (NGS panel for 31 genes)
Limb-girdle muscular dystrophy - dystroglycanopathy type C2 (MDDGC2, sequence analysis of POMT2 gene)
Walker-Warburg syndrome |Congenital muscular dystrophy with mental retardation | Limb-girdle muscular dystrophies (dystroglycanopathies types A2, B2 and C2, deletion/duplication analysis on POMT2 gene)
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)