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Walker-Warburg syndrome (sequence analysis of ISPD gene)
ISPD
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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 |
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
- Rare diseases, Neurology / Neuropediatrics, Ophthalmology, Pediatrics
CGC Reference
- 2801
Associated Tests
Congenital muscular dystrophies (NGS panel for 31 genes)
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)
Vitreoretinopathy (NGS panel of 27 genes)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)