Medical genetic testing kits

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 i...