MERRF
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000218723.2
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2013-06-29
Last annual review date for the lab: 2024-06-24 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
MERRF syndrome; MERRF/MELAS overlap syndrome
Genes (1): Help
MT-TK ()
Molecular Genetics - Targeted variant analysis: Allele-specific primer extension (ASPE)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Institute of Medical Genetics and Genomics
Test short name: Help
MER
Specimen Source: Help
  • Isolated DNA
  • Muscle biopsy
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
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 *
Targeted variant analysis
Allele-specific primer extension (ASPE)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Comments: Help
Mutation panel: MERRF A8344G ,MELAS A3243G , T3271C, A3291C,MERRF / MELAS T8356C
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PRESENCE OF MUTATION CONFIRMS DIAGNOSIS 100%
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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.