Dear All
So far, we have lists of tests offered by Children's Hospital Westmead (CHW), kindly sent by Bruce Bennetts' team, and I've been informed of tests available from Sonic as well.
I welcome further information from other laboratories involved in these testing domains, so that a comprehensive database can be assembled. As you've seen, a centralised database also exists on RCPA website, and the goal would be to share this information with that site so as to ensure, wherever possible, that details are up-to-date. Only genetic tests which centrally bear upon immunological disturbances will be listed here. I'll be adding these details to spreadsheet for rare and noteworthy tests in due course: the spreadsheet is available here.
CHW | Bruce Bennetts |
CINCA SYNDROME; Muckle-Wells syndrome NEONATAL-ONSET; NOMID NLRP3
Familial Mediterranean Fever - FMF MEFV
SCID (severe combined immunodeficiency) and Omenn syndrome (autosomal recessive) RAG1 and RAG2
SCID (severe combined immunodeficiency) - (X-linked) IL2RG
TRAPS (Tumor Necrosis Factor Receptor associated periodic syndromes) TNFRSF1A
Sonic Clinical Institute | Karl Baumgart |
C1 esterase deficiency SERPIN1
Coeliac HLA risk gene HLA-DQ2,DQ8
Type III HAE (Preferred term "Angioedema with Normal Complement levels") Factor XII gene C1032A mutation
FMF MEFV
TRAPS TNFRSF1A
Myeloproliferative syndromes including PCRV, ET JAK2
Abacavir hypersensitivity risk marker HLAB5701
Ankylosing spondylitis risk marker (+acute anterior uveitis, iritis, psoriatic arthritis, Reiter's syndrome) HLAB27
Carbamazepine hypersensitivity risk marker (Chinese, Asian background) HLAB1502
I welcome further information from other laboratories involved in these testing domains, so that a comprehensive database can be assembled. As you've seen, a centralised database also exists on RCPA website, and the goal would be to share this information with that site so as to ensure, wherever possible, that details are up-to-date. Only genetic tests which centrally bear upon immunological disturbances will be listed here. I'll be adding these details to spreadsheet for rare and noteworthy tests in due course: the spreadsheet is available here.
Regards GR
[Remember Link for (searchable) RCPA Catalogue of Genetic Tests and Laboratories: http://genetictesting.rcpa.edu.au/]
CINCA SYNDROME; Muckle-Wells syndrome NEONATAL-ONSET; NOMID NLRP3
Familial Mediterranean Fever - FMF MEFV
SCID (severe combined immunodeficiency) and Omenn syndrome (autosomal recessive) RAG1 and RAG2
SCID (severe combined immunodeficiency) - (X-linked) IL2RG
TRAPS (Tumor Necrosis Factor Receptor associated periodic syndromes) TNFRSF1A
Sonic Clinical Institute | Karl Baumgart |
C1 esterase deficiency SERPIN1
Coeliac HLA risk gene HLA-DQ2,DQ8
Type III HAE (Preferred term "Angioedema with Normal Complement levels") Factor XII gene C1032A mutation
FMF MEFV
TRAPS TNFRSF1A
Myeloproliferative syndromes including PCRV, ET JAK2
Abacavir hypersensitivity risk marker HLAB5701
Ankylosing spondylitis risk marker (+acute anterior uveitis, iritis, psoriatic arthritis, Reiter's syndrome) HLAB27
Carbamazepine hypersensitivity risk marker (Chinese, Asian background) HLAB1502
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