Mitochondrial - respiratory chain enzymes
Overview
Respiratory chain enzyme testing in biopsies or perimortem samples of muscle, liver or heart or in cultured skin fibroblasts has traditionally been the first line diagnostic method used for most children with suspected mitochondrial disease.
An accurate enzyme diagnosis can guide subsequent testing of single genes or to confirm that mutations in a candidate gene are truly causative. In recent years it has become common to offer exome sequencing or mtDNA sequencing or both prior to enzyme testing.
Enzyme testing is now used more commonly as a second line test for functional validation of candidate genetic variants from genomic studies or when those genomic studies fail to identify a candidate disease gene.
Turnaround time
Tissue: 6 weeks
Cell lines: 6 months
Cost
Tissue: $1130
Cell lines: $1525
Talk to us
Please contact Professor David Thorburn