T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (sequence analysis of IL7R gene)
IL7R
|
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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, Pediatrics, Pulmonology/Pneumology
CGC Reference
- 3984
Associated Tests
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (deletion/duplication analysis of IL7R gene)
Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)