List of diseases covered by
Severe Combined Immunodeficiency NGS panel
| Gene | Condition |
| ADA | Severe combined immunodeficiency due to ADA deficiency |
| AK2 | Reticular dysgenesis |
| CARD11 | B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A; Immunodeficiency 11B with atopic dermatitis |
| CD247 | Immunodeficiency 25 |
| CD40 | Immunodeficiency with hyper-IgM, type 3 |
| CD8A | CD8 deficiency, familial |
| CD3D | Immunodeficiency 19 |
| CD3E | Immunodeficiency 18, SCID variant |
| CD3G | Immunodeficiency 17, CD3 gamma deficient |
| CD40LG | Immunodeficiency, X-linked, with hyper-IgM |
| CIITA | Bare lymphocyte syndrome, type II, complementation group A; Rheumatoid arthritis, susceptibility to |
| CORO1A | Immunodeficiency 8 |
| DCLRE1C | Severe combined immunodeficiency, Athabascan type; Omenn syndrome |
| DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive |
| FOXN1 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant |
| IKBKB | Immunodeficiency 15A; Immunodeficiency 15B |
| IL7R | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type |
| IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity |
| IL2RG | Combined immunodeficiency, X-linked, moderate; Severe combined immunodeficiency, X-linked |
| JAK3 | SCID, autosomal recessive, T-negative/B-positive type |
| LCK | Immunodeficiency 22 |
| LIG4 | LIG4 syndrome |
| MALT1 | Immunodeficiency 12 |
| MTHFD1 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| ORAI1 | Immunodeficiency 9; Myopathy, tubular aggregate, 2 |
| PGM3 | Immunodeficiency 23 |
| PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
| PRKDC | Immunodeficiency 26, with or without neurologic abnormalities |
| PTPRC | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive |
| RAC2 | Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia; Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia |
| RAG1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Omenn syndrome; Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, B cell-negative |
| RAG2 | Combined cellular and humoral immune defects with granulomas; Omenn syndrome; Severe combined immunodeficiency, B cell-negative |
| RFX5 | Bare lymphocyte syndrome, type II, complementation group C |
| RFXANK | MHC class II deficiency, complementation group B |
| RFXAP | Bare lymphocyte syndrome, type II, complementation group D |
| RMRP | Anauxetic dysplasia 1; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis |
| SLC46A1 | Folate malabsorption, hereditary |
| STAT5B | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant |
| STIM1 | Immunodeficiency 10; Myopathy, tubular aggregate, 1; Stormorken syndrome |
| TBX1 | Conotruncal anomaly face syndrome; DiGeorge syndrome; Tetralogy of Fallot; Velocardiofacial syndrome |
| TTC7A | Gastrointestinal defects and immunodeficiency syndrome |
| UNC119 | Immunodeficiency 13 |
| ZAP70 | Immunodeficiency 48; Autoimmune disease, multisystem, infantile-onset, 2 |