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PGmito - Mitochondrial Genome Sequencing
Clinical Genetic Test
Help
offered by
PreventionGenetics, part of Exact Sciences
View lab's test page
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GTR Test Accession: Help GTR000592349.1
INHERITED DISEASEMITOCHONDRIAL DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-01-15
View version history
Last annual review date for the lab: 2023-06-19 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (16): Help
Mitochondrial disease; Complex V deficiency; Inborn mitochondrial myopathy; ...
Chromosomal regions/ Mitochondria (1): Help
Mitochondrion
Genes (37): Help
MT-ATP6 (), MT-ATP8 (), MT-CO1 (), MT-CO2 (), MT-CO3 (), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients who present with oxidative phosphorylation defects (either isolated or …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PreventionGenetics, part of Exact Sciences
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
12980
View other test codes
How to Order: Help
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 12980
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 37
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
Patients who present with oxidative phosphorylation defects (either isolated or combined), lactic acidosis, and/or a clinical presentation that is suggestive of a mitochondrial disorder are good candidates for this test.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
As required, genomic DNA is extracted from the patient specimen prior to amplification and sequencing. For PGmito, we use long-range polymerase chain reaction (lr-PCR) followed by massively parallel, high-throughput sequencing (next generation sequencing) in order to accurately detect heteroplasmic mtDNA variants. To mitigate allele dropout, two separate PCR primer sets … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Twenty-three well-characterized controls were used to validate this assay. When both fragments were analyzed for each sample, we accurately detected all reported variants down to 4% heteroplasmy, with the great majority of calls (91%) within 1% of the heteroplasmic load reported by the source (if known). Variants above 20% were … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.

Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:

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