Mitochondrial genome sequencing
GTR Test Accession: Help GTR000592488.2
Last updated in GTR: 2021-04-30
Last annual review date for the lab: 2024-01-22 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Acetyl-CoA: carboxylase deficiency; 2-hydroxyglutaric aciduria; 3-Methylglutaconic aciduria type 2; ...
AARS2 (6p21.1), ABAT (16p13.2), ABCB7 (Xq13.3), ACACA (17q12), ACAD9 (3q21.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: SNP Detection
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Ordering Information
Offered by: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Buffy coat
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
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
After obtaining the patient specimen and patient information, please ship us the specimen and accompanying information to 1920 NE Stucki Ave, Suite 150, Hillsboro, OR 97006

The patient information and test details can be provided one of two ways:
1. Via our online submission platform ( - once …
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Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
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: 526
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 339
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
SNP Detection
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
VUS is called when the identified variation is: (1) novel (not in any database); (2) rare (allele frequency <0.005) with no additional information available or called VUS by published references and/or ClinVar; (3) rare (allele frequency <0.005) and called as a mutation by only one published reference

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We either call or email by using the information provided to us in the requisition forms.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report

Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Technical Information
Test Procedure: Help
NGS sequencing and variant analysis
View citations (1)
  • Mitochondrial genome were amplified by PCR and proceeded to NGS library preparation and sequencing by Illumina NGS Sequencing platforms.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
More than 40 samples with known results were retested with the panel. The results are 100% repeatable.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Software used to interpret novel variations Help
ExAC, dbSNP, ClinVar, MVL database

Laboratory's policy on reporting novel variations Help
We report novel variants unless clients specifically state that they don't want us to include novel variants in reports.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.