The Biochemical Genetics Laboratory utilizes state-of-the-art instrumental methods to diagnose and monitor patients with inherited metabolic diseases, including disorders of amino and organic acid ...

We analyzed DNA from 1,495 patients with multiple myeloma. Using a custom-built single nucleotide polymorphism (SNP) array, we tested the association of TrPN with 3,404 SNPs. The SNPs were selected in ...

The Northern Ireland Regional Molecular Diagnostics Service (RMDS) has relied traditionally on cytogenetic techniques such as karyotyping, fluorescent in situ hybridisation (FISH) and SNP Array to ...