Clinical audit of genetic testing and referral patterns for fragile X and associated conditions

American Journal of Medical Genetics. Part a
Megan CotterSylvia A Metcalfe

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 mutation seeking a diagnosis without a fragile X family history was 4.3 years (males) and 9.4 years (females); these ages were lower when pediatricians ordered the tests (2.1 years and 6.1 years, respectively). Individuals with a premutation were generally tested at a later age (median age: males, 33.2 years; females, 36.4 years). Logistic regression showed that a family history of ID (OR 3.28 P = 0.005, CI 1.77-5.98) was the only indication to independently increase the likelihood of a test-positive (FM or PM) result. Following testing, ∼25% of ...Continue Reading

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Citations

Mar 30, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Claudine M KraanDavid E Godler
Mar 27, 2018·American Journal of Medical Genetics. Part a·Lisa D PalmerAnne S Bassett
Jun 5, 2019·Expert Review of Molecular Diagnostics·Deepika Delsa DeanSrinivasan Muthuswamy
Jul 29, 2017·International Journal of Pediatrics·Chariyawan CharalsawadiPornprot Limprasert
Dec 6, 2021·The Journal of Pediatrics·Tristan J BamptonLyle Palmer

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