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Aicardi-Goutieres syndrome type 5 (sequence analysis of SAMHD1 gene)
SAMHD1
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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 |
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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
- 2613
Associated Tests
Aicardi-Goutieres syndrome (NGS panel of 7 genes)
Immunodeficiencies - auto-inflammatory diseases (WES based NGS panel of 34 genes, including CNV analysis)