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Omenn syndrome (deletion/duplication analysis on RAG1)
RAG1
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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)

- 60

Specialties

- 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 for 52 genes)
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes)