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Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes)
Clinical Genetic Test
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offered by
Genesys Diagnostics
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GTR Test Accession: Help GTR000607977.1
CAP
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2023-08-15
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Last annual review date for the lab: 2024-07-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (15): Help
Hypercholesterolemia, familial, 1; Familial hypobetalipoproteinemia 1; Familial type 5 hyperlipoproteinemia more...
Genes (15): Help
APOA4 (11q23.3); APOA5 (11q23.3); APOB (2p24.1); CETP (16q13); CREB3L3 (19p13.3) more...
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
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CARDFHCL
Informed consent required: Help
Yes
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: 15
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
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 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? 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
Practice guidelines:
Consumer resources:

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.