T−B− SCID is caused by autosomal recessive mutations in several genes, some of which are necessary for antigen receptor rearrangement, RAG1, RAG2, and DCLRE1C (ARTEMIS). Defects in these genes lead to impaired development of both B and T cells, while NK-cell development is normal.
In addition to the T−B+ SCID sequencing panel (see related tests), EGL Genetics offers this complementary panel that sequences the genes associated with T−B− SCID through next generation sequencing technology. This technology is an excellent tool for obtaining gene sequences rapidly and accurately since it allows deep coverage of the genome through multiple independent sequence reads.
- Fischer A et al, (2005), Immunol Rev 203:98-109.
- Buckley RH et al, (2004), Annu Rev Immunol 22:625-55.
- Leonard W et al, (2001), Nat Rev Immunol 1:200-8.
- Confirmation of a clinical diagnosis of Severe Combined Immunodeficiency (SCID) B-.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel
- Severe Combined Immunodeficiency (SCID) B-: Deletion/Duplication Panel