MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000320894.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2013-06-03
Last annual review date for the lab: 2024-03-27 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Genes (1): Help
MPV17 (2p23.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Centre for Inherited Metabolic Diseases
View lab's website
Test short name: Help
MPV17
Lab contact: 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.
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Comments: Help
Southern blot analysis from muscle DNA is offered to detect DNA depletion
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The bidirectional sequencing of the entire MPV17 coding region and exon-intron bouderies has analytical sensitivity and specificity of 99 percent.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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