Dear All
Response:
Myfanwy's laboratory can test for FMF. TRAPS testing (TNFRSF1A) can be performed at Children's Hospital Westmead (CHW), and there is now have growing information on availability of HIDS, with Melanie Wong's recent helpful list having indicated that the mevalonate kinase gene test is also available (under validation) through the lab at CHW
Thanks to Myfanwy Spellerberg for her query on test availability, with email indicating that a clinician was asking if anyone tests for TNF receptor-associated periodic fever syndrome (TRAPS) and Hyper IgD syndome (HIDS)
also known as mevalonic kinase deficiency. Story from requesting doctor: "I am seeing a 4 year old who has recurrent fevers that are very stereotypical, last 3-4 days and occur every 21-23 days. Family is of northern european origin. I'm planning on seeing him during the next acute attack to get a bit more information on what is going on and check his neutrophil counts, inflammatory markers etc."
also known as mevalonic kinase deficiency. Story from requesting doctor: "I am seeing a 4 year old who has recurrent fevers that are very stereotypical, last 3-4 days and occur every 21-23 days. Family is of northern european origin. I'm planning on seeing him during the next acute attack to get a bit more information on what is going on and check his neutrophil counts, inflammatory markers etc."
Response:
Myfanwy's laboratory can test for FMF. TRAPS testing (TNFRSF1A) can be performed at Children's Hospital Westmead (CHW), and there is now have growing information on availability of HIDS, with Melanie Wong's recent helpful list having indicated that the mevalonate kinase gene test is also available (under validation) through the lab at CHW
Once again, I take the opportunity to point everyone towards the RCPA genetic testing website
Regards
Glenn
Send items surrounding discussions (clinical or laboratory), questions, queries on assay availability, conundrums, information, etc. to Glenn Reeves for dissemination
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