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Exome with CNV Evaluation, Reanalysis
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
GTR Test Accession: Help GTR000613267.1
INHERITED DISEASEMITOCHONDRIAL DISEASE
Registered in GTR: 2024-06-14
View version history
Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Hereditary disease; Mitochondrial disease
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
Test Order Code: Help
36938
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* 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
Availability: Help
Tests performed
Interpretation performed at an outside lab
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
Specimen preparation, wet lab work, and interpretation performed at Athena Diagnostics. Bioinformatic pipeline performed at Variantyx.
Analytical Validity: Help
The Exome Sequencing Assay is greater than 90% sensitive for detecting copy number variants with three or more exons in the genomic regions analyzed. The Exome Sequencing Assay is greater than 99.5% sensitive for detecting substitutions in the genomic regions analyzed. In addition this assay is greater than 94% sensitive … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
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
Practice guidelines:
Consumer resources:

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