BSPED2013 Poster Presentations (1) (89 abstracts)
Development of a next generation sequencing panel for disorders of sex development (DSDs)
Lowri Hughes 1 , Trevor Cole 2 , Nils Krone 3 , Stephanie Allen 1 , Graham Fews 1 & Fiona MacDonald 1
1West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust, Birmingham, UK; 2West Midlands Clinical Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham, UK; 3School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.
Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce the period of uncertainty for families regarding the sex of rearing of their child. Cytogenetics may provide guidance on possible causes and if further investigations are indicated. However a definitive molecular diagnosis is only made in around 20% of cases. Current molecular testing strategies for DSDs are not ideal, as tests for only a few of the many associated genes are currently available and are tested sequentially. The development of next generation sequencing allows for multiple genes to be investigated in a single test at a reduced cost compared to current sequencing strategies. Such a test for DSDs would eliminate the long waiting times currently being experienced by patients due to sequential testing. A TruSeq custom amplicon panel has been designed encompassing 32 genes associated with DSDs including WT1, SOX9, AR, ARX, ATRX, SRD5A2, CYP11B1 and STAR. Initial validation of the assay has been carried out with 30 patients carrying known mutations. Details of the panel and results obtained to date will be presented.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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