GTR Test Accession:
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GTR000607977.1
CAP
Last updated in GTR: 2023-08-15
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GTR000607977.1, last updated: 2023-08-15
Last annual review date for the lab: 2024-07-05
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (15):
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Hypercholesterolemia, familial, 1;
Familial hypobetalipoproteinemia 1;
Familial type 5 hyperlipoproteinemia
more...
Genes (15):
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Methods (1):
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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:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Nurse Practitioner
Test Order Code:
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CARDFHCL
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 15
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 15
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
Clinical utility:
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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:
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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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The GDI Cardiac Sequencing Familial Hypercholesterolemia Panel sequences 15 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?
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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
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:
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Not provided
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.