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Vitreoretinopathy (NGS panel of 27 genes)
ATOH7, ATP6V0A2, BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CTNNB1, FZD4, ISPD, KCNJ13, KIF11, LRP5, NDP, NR2E3, RCBTB1, RS1, TSPAN12, VCAN, ZNF408
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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)
- 45
Specialties
- Rare diseases, Neurology / Neuropediatrics, Ophthalmology, Pediatrics
CGC Reference
- 5093
Associated Tests
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel for 77 genes, including CNV analysis)
Stickler syndrome (NGS panel of 6 genes)
Epiphyseal dysplasia multiple (NGS panel of 7 genes)
Focal segmental glomerulosclerosis (WES based NGS panel for 32 genes, including CNV analysis)
Alport syndrome (NGS panel of 3 genes)