Molecular testing

Our testing employs highly sensitive droplet digital polymerase chain reaction (ddPCR) technology to detect mitochondrial DNA deletions and duplications. This is the only method available to enable absolute — rather than relative/indirect — quantification of heteroplasmy and significantly reduces the risk of false-negative and false-positive results. To successfully capture copy number variants that fall outside of normal breakpoints typically detected by other laboratory tests, our assay uses six different primer sets. This approach has enabled successful diagnoses in patients with previous false-positive or false-negative results from other labs.

Key testing

• CMITO | Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
  • Establishes genetic diagnosis of mitochondrial disease resulting from variants in either nuclear-encoded genes or the mitochondrial genome.
  • Identifies variants known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members.
  • Uses next-generation sequencing to detect single nucleotide and copy number variants in 221 nuclear genes and amplification of the entire mitochondrial genome by long-range polymerase chain reaction.
• MITOP | Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
  • Establishes genetic diagnosis of a subset of mitochondrial diseases that results from variants in the mitochondrial genome.
  • Identifies variants within genes of the mitochondrial genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members.
  • Includes amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LR-PCR) followed by next-generation sequencing to evaluate for variants within the mitochondrial genome.
• NMITO | Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
  • Establishes genetic diagnosis in the subset of mitochondrial disease that results from variants in the nuclear-encoded genes.
  • Identifies variants within genes of the nuclear genome known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members.
  • Uses next-generation sequencing to detect single nucleotide and copy number variants in 221 genes associated with nuclear mitochondrial disease.
• CLADP | Congenital Lactic Acidosis Panel, Varies
  • Establishes molecular diagnosis of congenital lactic acidosis.
  • Uses NGS to detect single nucleotide and copy number variants in 28 genes associated with congenital lactic acidosis.

---

Biochemical testing

The diagnostic process for mitochondrial disease may begin with a set of biochemical tests that, when abnormal, can be indicative of a metabolic disorder. Correlating biochemical laboratory results with the clinical presentation and other test results can further confirm suspicion of mitochondrial disease.

Key testing

• GDF15 | Growth Differentiation Factor 15, Plasma
  • Growth differentiation factor 15 (GDF15) has been shown to be significantly elevated in plasma or serum in studies of patients with mitochondrial disease. High elevations of GDF15 appear to have a useful role, alongside other mitochondrial disease biomarkers, such as blood lactate, in the evaluation of patients with suspected mitochondrial disorders.
• AAQP | Amino Acids, Quantitative, Plasma
• FAPM | Fatty Acid Profile, Mitochondrial (C8-C18), Serum
• LAPYP | Lactate Pyruvate Panel, Plasma
• MMPP | Mitochondrial Metabolites, Plasma
• OAU | Organic Acids Screen, Random, Urine
• PYR | Pyruvic Acid, Blood
• PYRC | Pyruvate, Spinal Fluid
• Q10 | Coenzyme Q10, Reduced and Total, Plasma