Mitochondrial DNA (mtDNA) testing examines the entire mtDNA genome for genetic variants associated with mitochondrial disorders, including sequence variants and deletions/duplications. While some people may have symptoms of a distinct mitochondrial disorder, such as mitochondrial encephalopathy, lactic acidosis, or stroke-like episodes (MELAS), there is considerable clinical variability and symptoms that overlap with other diseases.
Bionano Laboratories offers unlimited clinical support to patients and providers through access to our genetic counselors who can discuss testing capabilities, strategy, informed consent, and results.
Providers can call our genetic counselors at
The entire mitochondrial genome (37 genes) is analyzed with our mtDNA genetic test.
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
Mitochondrial DNA is amplified by PCR using four sets of overlapping primers so that all 16,569 nucleotides are covered. Prepared DNA libraries from the amplified mitochondrial DNA are then sequenced using next-generation sequencing technology. The minimum sequencing coverage for every nucleotide in the mitochondrial DNA is 1000x; the mean coverage over the entire mitochondrial DNA in this specimen is at least 10,000x. Sequences were aligned to the revised Cambridge Reference Sequence for mitochondrial DNA.
Mitochondrial DNA testing should be considered when an individual has symptoms of a mitochondrial disorder, which can include multiple body systems or organs. Common symptoms can include generalized development disability, features of autism spectrum disorder, intellectual disabilities, muscle weakness, seizures, peripheral neuropathy, cardiomyopathy, liver and kidney disease, vision loss (ophthalmoplegia, retinitis pigmentosa), hearing loss, and diabetes mellitus.
Mitochondrial DNA results are often complex and challenging to interpret due to a phenomenon known as heteroplasmy. This means that a cell has many mitochondria and therefore has multiple copies of mitochondrial DNA. Within this cell, the copies of mitochondrial DNA may be different from each other, meaning some mitochondrial DNA will have genetic variants while others do not. Both providers and patients have access to our certified team of genetic counselors to review results at their convenience. To schedule an appointment, please call 801.931.6191, or schedule online.
