PEO Panel by Massively Parallel Sequencing
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000511569.3
INHERITED DISEASEMETABOLIC DISEASEMITOCHONDRIAL DISEASE ... View more
Last updated in GTR: 2024-07-19
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Diagnosis
Mitochondrial DNA depletion syndrome 4b; 3-Methylglutaconic aciduria type 3; Autosomal dominant optic atrophy classic form more...
MGME1 (20p11.23); OPA1 (3q29); OPA3 (19q13.32); POLG (15q26.1); POLG2 (17q23.3) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
General population with clinical diagnosis of disease
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Buccal swab
  • Cell culture
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Test Order Code: Help
2140
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: 18
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
General population with clinical diagnosis of disease
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
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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