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 ...

Karyotype analysis includes complete chromosome analysis of at least twenty metaphases with at least two cut karyotypes. The presence or absence of an acquired clonal chromosomal abnormality may aid ...

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 ...

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 ...