Nuclear-Encoded Genes Help Identify Mitochondrial Dysfunction

Ten nuclear gene screening assays have been added to a clinical diagnostic menu for mitochondrial disorders.

The 10 autosomal genes encode key proteins for mitochondrial maintenance and function including: POLG1, DGUOK, TP, TK2, SURF1, SCO1, SCO2, COX10, BCS1L, and SLC25A4. It has been established that mutations in these genes are associated with various clinical disease syndromes that involve mitochondrial dysfunction. Early identification of these mutations can facilitate accurate diagnosis and improve patient care.

The addition of these tests to the Transgenomic (Omaha, NE, USA) diagnostic services portfolio will expand Transgenomic Laboratories' inherited disorder offering and broaden the genetic laboratory services available to clinical labs and pediatric neurologists. Transgenomic's president and CEO, Craig Tuttle, said, The addition of the nuclear genes to the mitochondrial testing menu makes Transgenomic Laboratories one of the few molecular diagnostic labs in the country that can detect mitochondrial disease causing mutations in both the mitochondrial genome and the nuclear genome. This addition improves the service offering to our partner labs and should generate greater revenue.

Transgenomic is a global biotechnology company that provides unique systems, products, discovery, and laboratory testing services to the academic and medical research, clinical, and pharmaceutical markets for automated high sensitivity genetic variation, and mutation analysis in the fields of pharmacogenomics and personalized medicine.





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