Agammaglobulinemia
| Gene name | Transcript | Clinical sensitivity |
| PIK3R1 | ENST00000521381 | |
| BTK | ENST00000308731 | 85% [128] |
Autoimmune lymphproliferative syndrome
| Gene name | Transcript | Clinical sensitivity |
| CTLA4 (CD152) | ENST00000302823 |
Autoinflammation, antibody deficiency and immune dysregulation syndrome
| Gene name | Transcript | Clinical sensitivity |
| PLCG2 | ENST00000359376 |
Candidiasis, familial
| Gene name | Transcript | Clinical sensitivity |
| CARD9 | ENST00000371732 | |
| IL17F | ENST00000336123 | |
| IL17RA (IL17R) | ENST00000319363 |
Hyper-IgE recurrent infection
| Gene name | Transcript | Clinical sensitivity |
| DOCK8 | ENST00000453981 | 75% [129 |
| STAT3 | ENST00000264657 | 61 [130] |
Common variable immunodeficiency
| Gene name | Transcript | Clinical sensitivity |
| BACH2 | ENST00000257749 | |
| CARD11 | ENST00000396946.4 | |
| CD19 | ENST00000538922 | |
| CR2 (CD21) | ENST00000367057 | |
| GATA2 | ENST00000487848 | |
| IKZF1 | ||
| IL12B (CLMF2/NKSF2) | ENST00000231228 | |
| IL17A | ENST00000340057 | |
| IL21 | ENST00000364497 | |
| IL21R | ENST00000337929 | |
| LRBA | ENST00000357115 | |
| MS4A1 | ENST00000534668 | |
| NFKB1 | ENST00000226574 | |
| NFKB2 | ENST00000369966 | |
| PIK3CD | ENST00000377346 | |
| RAG1 | ENST00000299440 | |
| RAG2 | ENST00000618712 | |
| STAT1 | ENST00000361099 | |
| TLR2 | ENST00000260010 | |
| TLR3 | ENST00000296795 | |
| TLR4 | ENST00000355622 | |
| TLR9 | ENST00000360658 | |
| TNFRSF13B (TACI) | ENST00000261652 | |
| TNFRSF13C (BAFFR) | ENST00000291232 |
Immunodysregulation, polyendocrinopathy & enteropathy
| Gene name | Transcript | Clinical sensitivity |
| FOXP3 | ENST00000376207 |
Susceptibility to Aspergillosis
| Gene name | Transcript | Clinical sensitivity |
| CLEC7A | ENST00000304084 |
Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Telephone: +44(0)207 352 8121, ext 83009
Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk
Opening hours: Monday to Friday, 9am to 5pm
Head of laboratory: Dr Deborah Morris-Rosendahl
Useful documents
Molecular genetic testing request and consent form (pdf, 431KB)
Non-NHS molecular genetic testing request and consent form (pdf, 493KB)