Mitochondrial Diseases (mtDNA and 217 nuclear genes)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000520058.14
INHERITED DISEASEMETABOLIC DISEASEMITOCHONDRIAL DISEASE ... View more
Last updated in GTR: 2021-02-05
Last annual review date for the lab: 2021-02-05 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Mitochondrial disease; 3-methylglutaconic aciduria type 8; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; ...
AARS2 (6p21.1), ABCB7 (Xq13.3), ACAD9 (3q21.3), ACADL (2q34), ACADM (1p31.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
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: 89
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 209
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)
Illumina NextSeq 500
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variations are first classified based on frequency (according to databases such as 1000 Genomes and GnomAD). Rare variations are classified as VUS if: 1) the variation has not been reported previously and available information (effect prediction models, conservation scores and patient data) does not allow other classification; 2) there are … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Potentially pathogenic/pathogenic findings are confirmed using another technology.
Test Comments: Help
Testing includes sequencing of mitochondrial genome and the entire coding region of 217 nuclear genes. CNV analysis is included in the panel of nuclear genes.
Sanger sequencing of ACADS and ACADVL genes is available.
Del/dup analysis of DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK genes by MLPA.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Technical accuracy >99,8%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Alamut® Visual (includes splice site prediction tools, SIFT, PolyPhen2, MutationTaster, frequency data).

Laboratory's policy on reporting novel variations Help
Novel variations are interpreted in the context of the patient’s data as well as information known about the gene that it was found in. If possible association with patient’s phenotype is suspected, novel variations are reported with a short description of the possible effect and population frequencies.
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.