Transgenomic says its Transgenomic Laboratories division has further strengthened its clinical diagnostic menu for mitochondrial disorders by adding ten nuclear gene screening assays
The ten 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 diagnostic services portfolio will expand Transgenomic Laboratories inherited disorder offering and broaden the genetic laboratory services available to clinical labs and pediatric neurologists.
In making the announcement, Transgenomic's president and chief executive officer, Craig Tuttle, stated: "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 Laboratories delivers the most sensitive analysis across the broadest range of genes in the shortest period of time - increasingly making Transgenomic the number one choice for mitochondrial genetic disorder analysis".
Transgenomic Laboratories says it has unique proprietary expertise that enables the accurate detection of mutations with as low as 0.1% mutant to allele ratio making it one of the leading labs in the country for this type of testing methodology.