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Omenn syndrome (deletion/duplication analysis on RAG1)
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Real-time quantitative PCR (RT-qPCR)

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Dermatology, Rare diseases, Pediatrics

CGC Reference

- 5201

Associated Tests

Omenn syndrome (sequence analysis of RAG1 and RAG2 gene)
Omenn syndrome (sequence analysis of RAG1 gene)
Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes)