Available Assays

Initial molecular testing for the diagnosis of galac-tosemia focuses on the most prevalent mutations or the N314D mutation associated with Duarte galactosemia (Duarte-2) by quick and cost-effective methods, such as multiplex PCR followed by restriction enzyme digestion.18 If only one mutation or no mutations are found, screening of all 11 exons and exon-intron boundaries by PCR amplification plus SSCP analysis with confirmation of positives by DNA sequencing or direct DNA sequencing alone is performed.18 A detection rate of 96% can be achieved by a combination of testing for prevalent mutations and direct DNA sequencing.19 The remaining 4% of undetected mutations may be due to unknown sequence changes within intronic regions that affect splicing or in the 5' or 3' untranslated regions of the GALT gene that may affect transcriptional or translational efficiency or both.

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