Immunologically-Related Genetic Tests - From Melanie Wong

Dear All

Thanks to Melanie for informing us of the full suite of genetic assays available through the Childrens' Hospital Westmead
, all of which are NATA-accredited
"Immunology at CHW is currently doing the following tests. We update the RCPA website as new tests are set up and validated. Please also note that Rag1/Rag2 was initially set up in Bruce Bennett's lab but has now been transferred to Immunology. Bruce is about to update the website to reflect this."
[Remember Link for (searchable) RCPA Catalogue of Genetic Tests and Laboratories: http://genetictesting.rcpa.edu.au/]

·         IL7R - Interleukin 7 receptor

·         RAG1/RAG2 (Recombination activating gene 1 and 2)

·         DCLRE1C (ARTEMIS)

·         ADA (Adenosine Deaminase)

·         FAS (TNF receptor superfamily, member 6)

·         CYBB (Cytochrome b-245, beta polypeptide, GP91-PHOX)

·         AICDA (Activation-induced cytidine deaminase)

·         PRF1 (Perforin 1-pore forming protein)

·         UNC13D

·         IFNGR1 (Interferon gamma receptor 1)

·         IFNGR2 (Interferon gamma receptor 2) except exon 1 which is under validation

·         NFKBIA (Nuclear factor of kappa light polypeptide gene enhancer in b-cells inhibitor, alpha)

·         IRAK4 (Interleukin-1 receptor-associated kinase 4)

·         MYD88

·         DNA Ligase IV

·         SH2D1A (SAP)

·         STAT1 (exons 6 to 17)

·         STAT3 (exons 12 to 21) (exons 9 to 11 under validation)

·         MVK (Mevalonate Kinase) (under validation)

·         IL12B (Interleukin12-Beta) (under validation)

·         ELANE

Send items surrounding discussions (clinical or laboratory), questions, queries on assay availability, conundrums, information, etc. to Glenn Reeves for dissemination

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