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Researchers develop new clinical diagnostic test to identify genetic sources of mitochondrial disease

Researchers develop new clinical diagnostic test to identify genetic sources of mitochondrial disease
Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have developed a comprehensive sequencing test specifically for mitochondrial DNA (mtDNA). This new clinical diagnostic test, launched in the Division of Genomic Diagnostics (DGD) at CHOP, provides important information as to whether and to what level variations in the mtDNA are present in different tissues from a patient with suspected mitochondrial disease, leading to more precise diagnosis and more personalized treatment options. The findings were recently published in the journal Molecular Genetics and Metabolism.