Genomic Unity® Mitochondrial Genome Deletions Analysis
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000607948.1
Last updated in GTR: 2023-07-31
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Mitochondrial disease
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Patients with clinical features of mitochondrial disease.
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
+1 617-209-2090
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Genomic Unity Mitochondrial Genome Deletions Analysis orders are initiated at Following submission, a clinical coordinator will get in touch to send a blood or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.
Order URL
Informed consent required: Help
Test strategy: Help
When results are not positive, there is an option to reflex up to Genomic Unity Exome Analysis or Genomic Unity Exome Plus Analysis, and Genomic Unity Whole Genome Analysis.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Patients with clinical features of mitochondrial disease.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
The patient's DNA is sequenced using whole genome sequencing conducted on an Illumina platform at 30X mean mappable coverage. The relevant region(s) of DNA are subsequently isolated in-silico for analysis.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation, diagnosis and report generation is performed in-house.
Analytical Validity: Help
The Genomic Unity® Mitochondrial Genome Deletions Analysis is a whole mitochondrial genome sequence based test designed to identify variants that correlate with the patient's clinical symptoms. The genetic changes identified in the test include mitochondrial genome sequence analysis with heteroplasmy and large deletions. Mitochondrial variants are reported in the mitochondrial … View more
Assay limitations: Help
The false negative rate for mitochondrial large deletions have not been determined.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
Proprietary Variantyx Genomic Intelligence platform

Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.