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MELAS
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000324837.1
DYSMORPHOLOGYMITOCHONDRIAL DISEASEINHERITED DISEASE ... View more
Registered in GTR: 2013-05-07
View version history
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
MELAS syndrome
Chromosomal regions/ Mitochondria (1): Help
Mitochondrion
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Lab contact: Help
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
780-407-1015
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.
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
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 *
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
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?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Mutation: m.3243A>G
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
80% of patients with MELAS are found to have the common mutation
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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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