Targeted mtDNA Analysis by Massively Parallel Sequencing (MitoNGS℠)

Clinical Use

Use

The Targeted mtDNA Analysis will provide analysis and heteroplasmy quantification for mtDNA point mutations and unclassified variants. This test detects familial gross deletions/duplications in mtDNA. Phenotype is affected by heteroplasmy level and tissue distribution. It is crucial for patients with a previously identified familial mutation or unclassified variant to submit mutation information and clinical status. This ensures accurate assessment of mitochondrial disorders, which can be passed from mother to children. The test helps in understanding the intricacies of mitochondrial diseases and their inheritance patterns.

Special Instructions

This test must be discussed with a genetic counselor if the original familial mutation was identified in another laboratory. Proper documentation is essential for specimen submission.

Limitations

The detection threshold for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% using the Illumina HiSeq 2000 platform. This test does not quantify heteroplasmies for large or multiple deletions in mtDNA, thus limiting the analysis scope for certain mitochondrial disorders. Other limitations include the necessity for previously identified mutations for testing eligibility, which can restrict the testing population.

Test Details