mitochondrial DNA Depletion
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000501979.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2013-11-11
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Mitochondrial DNA depletion syndrome, encephalomyopathic form; Mitochondrial DNA depletion syndrome 1; Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Molecular Genetics - Deletion/duplication analysis: Other
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MGZ Medical Genetics Center
View lab's website
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: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Other
Roche LightCycler 480
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Comments: Help
Quantitative Analysis; Test Method: qPCR
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >90%, specifity >90%
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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