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Cardiology Sequencing- Aortopathy Comprehensive Panel (24 Genes)
Clinical Genetic Test
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offered by
Genesys Diagnostics
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GTR Test Accession: Help GTR000607974.1
CAP
INHERITED DISEASESYNDROMIC DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (17): Help
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Arterial tortuosity syndrome; ...
Genes (24): Help
ABCG5 (2p21), ABCG8 (2p21), ACTA2 (10q23.31), APOC2 (19q13.32), APOE (19q13.32), ...
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The GDI Cardiology Sequencing Panels are recommended for patients that …
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for management
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CARDAO
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:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 17
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 24
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Guidance for management
View citations (1)
  • Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine. Parikh VN, et al. Circulation. 2017;135(5):406-409. doi:10.1161/CIRCULATIONAHA.116.024258. PMID: 28137961.

Target population: Help
The GDI Cardiology Sequencing Panels are recommended for patients that are suspected of or are diagnosed with cardiac disorders with a known genetic link, have a family history of cardiac disorders, or have a known familial variant implicated in a gene that is covered by this panel.
Recommended fields not provided:
Clinical validity, 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
Entire test performed in-house
Analytical Validity: Help
The GDI Cardiac Sequencing Aortopathy Comprehensive Panel sequences 24 genes and was validated with a sensitivity and specificity of 96.5 and 100%, respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:

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