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Walker-Warburg syndrome (sequence analysis of POMT1 gene)
POMT1
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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
CPT Codes
- 81406
Specialties
- Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 683
Associated Tests
Lissencephaly (deletion/ duplication analysis on PAFAH1B1, DCX, POMT1, POMGnT1 and FLNA genes)
Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Congenital muscular dystrophies (NGS panel for 31 genes)
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)