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Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE)
Clinical Genetic Test
Help
offered by
Athena Diagnostics
GTR Test Accession: Help GTR000515111.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Registered in GTR: 2014-08-04
View version history
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Conditions (9): Help
Progressive sclerosing poliodystrophy; Infantile onset spinocerebellar ataxia; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) more...
Genes (4): Help
DGUOK (2p13.1); MPV17 (2p23.3); POLG (15q26.1); TWNK (10q24.31)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics
View lab's website
Test Order Code: Help
578
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are > 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
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
Not provided
Additional Information

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