TRAPS & HIDS

Dear All

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)

Immunologically-Related Genetic Tests - From Matthew Cook

Dear All

Thanks to Matthew Cook on availability of immunologically-related genetic tests:

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

Immunologically-Related Genetic Tests

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.

TRAPS Genetic testing - thanks to John Ziegler

Dear All

Thanks to John Ziegler for reminding us of the good work performed in the laboratory of Children's Hospital Westmead, under Bruce Bennetts' supervision, as listed on RCPA website

TRAPS Genetic testing - thanks to Ray Mullins

Dear All

Ray Mullins reminds us that Sonic also offers many specialised assays

TRAPS Genetic testing - from Sam Breit (Includes Link for RCPA Genetic Testing Database)

Dear All

Thanks to Professor Sam Breit for his query on availability of testing for TNF R mutations in TRAPS.

More on PID Gene Testing - From Rohan Ameratunga

Dear All

Thanks again to Rohan, whose work in this field has been tireless:
" I was asked by David Gillis to present our experience at the recent Path update in Melbourne.  I did talk briefly about our customised PID testing program. 

PID Genetic Testing - From Richard Loh

Dear All

Thanks to Richard Loh for his advocacy in finding a "best way" forward for Australasian PID gene testing:
"I wanted to know if Australia/NZ should have their own database for genetic tests for PID (? using current RCPA) 

PID Gene Testing - From Glenn Reeves

Dear All

It appears that we are blessed with a multitude of options for genetic testing in PID, and enthusiastic colleagues are full of helpful information about available services (summarised on this page).

PID Genetic Testing - From Rohan Ameratunga

Dear All

Our cup runs over - especially for NZ residents. Thanks to Rohan for highlighting his valuable NZ service.

STAT3 Mutation in ?Hyper-IgE Syndrome - From Melanie Wong

Thanks to Melanie for informing us of availability of this assay at The Children's Hospital, Westmead, as well

STAT3 Mutation in ?Hyper-IgE Syndrome - From Prof YL Lau

Dear All,

We have been providing e-consultation on suspected PID patients for Asian pediatric colleagues and lately African colleagues as well. 

STAT3 Mutation in ?Hyper-IgE Syndrome - From Stuart Tangye

Thanks to Stuart Tangye for informing me of assay availability through his laboratory, as well as performance of genotyping through Matthew Cook's laboratory

STAT3 Mutation in ?Hyper-IgE Syndrome - From Rohan Ameratunga

Thanks to Rohan for his information on assay availability, through LabPlus:

"Available at LabPlus, Auckland Hospital.  Kathryn can contact Dr See-Tarn Woon for costs etc if she wishes to proceed.Regards Rohan Ameratunga "

XII mutation testing for HAE - From Peter Davidson

Dear Peter

Assay available through Sonic Genetics
For relevant items on blog, click here

VEGF Assay - From Margret Schuller

Dear All

Thanks to Margret for conveying details of one the commercially-available ELISA kits for measuring VEGF levels - in this case, from Peprotech.com

Details of Peprotech VEGF ELISA available here

VEGF Assay - From Gary Unglik

Dear All

I'd appreciate feedback from anyone with knowledge of any lab's performing assay for VEGF levels. Input welcome.

Some additional info:

STAT3 Mutation in ?Hyper-IgE Syndrome - From Kathryn Patchett

Dear All

I'd be grateful for any help that can be provided on availability of the STAT3 mutation analysis assay. The patient in question is a 15 y.o. man

Fip1-like1 (FIP1L1)-PDGFRA F/P Fusion Gene for Hypereosinophilic Syndrome – From Daman Langguth

At SNP we can do the break apart probe, at peter mac they can type the defect.