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Martsolf syndrome (sequence analysis of RAB3GAP2 gene)
RAB3GAP2
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Methodology
NGS
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, Endocrinology, Neurology / Neuropediatrics, Ophthalmology
CGC Reference
- 3403
Associated Tests
Corneal anomalies (NGS panel of 33 genes)
Dilated cardiomyopathy (WES based NGS panel of 81 genes, including CNV analysis)