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Leigh Syndrome (nuclear DNA mutation)
Clinical Genetic Test
Help
offered by
John Welsh Cardiovascular Diagnostic Laboratory
GTR Test Accession: Help GTR000227956.1
Last updated in GTR: 2013-05-22
View version history
Last annual review date for the lab: 2023-05-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Monitoring; ...
Conditions (1): Help
Leigh Syndrome (nuclear DNA mutation)
Genes (2): Help
SCO2 (22q13.33), SURF1 (9q34.2)
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
John Welsh Cardiovascular Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Plasma
  • Product of conception (POC)
  • Saliva
  • Serum
  • Skin
  • Sputum
  • Urine
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Licensed Physician
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
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, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Monitoring; Mutation Confirmation; Pre-implantation genetic diagnosis; Pre-symptomatic; Risk Assessment; Screening
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
Sequence analysis of SCO2 and SURF1
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% detection of mutations in exons of SCO2 and SURF1
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
Category: FDA exercises enforcement discretion
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.