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Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5
Clinical Genetic Test
Help
offered by
MGZ Medical Genetics Center
GTR Test Accession: Help GTR000502277.3
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2014-09-09
View version history
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Genes (1): Help
RRM2B (8q22.3)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
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:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
Sanger Sequencing: Sensitivity >98%; MLPA: Sensitivity >95%, specifity >95% NGS_Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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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