FSHD1 TESTING, PATHWEST LABORATORY MEDICINE WA
PathWest has been undertaking assay testing for FSHD1 since 2022, following the
generous donation of funding by FSHD Global Research Foundation for a Bionano Sapphyr
analyser.
The above instrument has experienced technical issues for some months with the analysis
of FSHD1, with some results reported and others failing, creating a backlog of tests.
PathWest has worked actively with the vendor and reagent provider to try and rectify issues,
but this has been unsuccessful to date.
PathWest has identified a laboratory in Iowa, United States of America (USA), that is
accredited to conduct FSHD1 testing.
PathWest is currently contacting referrers to apologise for the inconvenience and notify that
they will need to send tests to the USA for analysis, until further notice.
PathWest acknowledges that the failure of the analyser is very unfortunate but assures
FSHD Global Research Foundation that every effort has been expended to try and
remediate technical issues.