Journal article

Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions

Megan Cotter, Alison D Archibald, Belinda J McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen, Sylvia A Metcalfe

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-BLACKWELL | Published : 2016

Abstract

An audit was conducted of laboratory/clinical databases of genetic tests performed between January 2003 and December 2009, and for 2014, as well as referrals to the clinical service and a specialist multidisciplinary clinic, to determine genetic testing request patterns for fragile X syndrome and associated conditions and referrals for genetic counseling/multidisciplinary management in Victoria, Australia. An expanded allele (full mutation, premutation or intermediate) was found in 3.7% of tests. Pediatricians requested ∼70% of test samples, although fewer general practitioners and more obstetricians/gynecologists ordered tests in 2014. Median age at testing for individuals with a full mutat..

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