Combined oxidative phosphorylation deficiency: Full gene sequencing panel
GTR Test Accession: Help GTR000568036.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2019-06-19
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; Combined oxidative phosphorylation defect type 11; Combined oxidative phosphorylation defect type 13 more...
AARS2 (6p21.1); AIFM1 (Xq26.1); ATP5F1A (18q21.1); C1QBP (17p13.2); CARS2 (13q34) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
CENP8100
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
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 39
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 39
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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