Medical genetic testing kits

Award outcome

Description

The All Wales Medical Genomics Service (AWMGS) has routinely utilised Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic tool for identifying Copy Number Variations (CNVs)—including deletions and duplications—across a range of genetic disorders. This testing supports clinical decision-making and patient treatment strategies.MLPA technology involves the use of oligonucleotide probe pairs that hybridise to specific DNA sequences within target genes. When both probes bind adjacently at a site of interest, they are ligated and subsequently amplified via Polymerase Chain Reaction (PCR). The amplified DNA fragments are then separated by capillary electrophoresis and analysed to detect CNVs.Since its inception, AWMGS has exclusively sourced MLPA probes and reagents from MRC Holland, a Netherlands-based supplier recognised for its specialised products in molecular diagnostics.

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