MitoNuc2Dx
MitoNuc2Dx™ Provides NextGen Sequencing of Nuclear Genes for Comprehensive Molecular Diagnosis of Mitochondrial Disease
MitoNuc2Dx™ is an improvement of the original MitoNucleomeDx test, providing physicians with a uniquely powerful tool for diagnosing mitochondrial disease. The test analyzes the exons of 509 nuclear genes implicated in mitochondrial disorders. The exons are sequenced numerous times using the SOLiD™ 4.0 NextGen platform to detect heterozygous and homozygous variants. Patient samples are run in replicate to provide a high level of statistical accuracy in mutation detection. Our clinicians provide interpretation of the functional significance of detected mutations by harnessing advanced bioinformatics and interpretation methods pioneered at MEDomics.
MitoNuc2Dx, in combination with MitoDx, will provide comprehensive, specific gene diagnoses that can elucidate the patient’s pathophysiology and guide targeted treatment. The results may also assist with the enrollment of patients into research and drug treatment trials that benefit from defined disease mechanisms.