Classic view of this page
Hypertriglyceridaemia genetic screen
Clinical Genetic Test
Help
offered by
Cardiovascular Genetics Laboratory
GTR Test Accession: Help GTR000327201.5
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-10-22
View version history
Last annual review date for the lab: 2024-10-06 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Hypertriglyceridemia 1; Hyperlipoproteinemia, type I
Genes (7): Help
APOA5 (11q23.3); APOC2 (19q13.32); APOE (19q13.32); GPIHBP1 (8q24.3); LMF1 (16p13.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: 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
Cardiovascular Genetics Laboratory
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Lab contact: Help
Amanda Hooper, PhD, BSc (Hon 1st), Laboratory Contact
[email protected]
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Please contact the laboratory for further information.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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:
Test Order Code, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
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
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
Test Confirmation: Help
Positive results confirmed using bidirectional Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
In patients with severe hypertriglyceridaemia (fasting plasma triglycerides >10 mmol/L), >40% carry one or more copies of rare coding variants in LPL, APOC2 or APOA5.
View citations (1)
  • Wang J, Ban MR, Zou GY, Cao H, Lin T, Kennedy BA, Anand S, Yusuf S, Huff MW, Pollex RL, Hegele RA. Polygenic determinants of severe hypertriglyceridemia. Hum Mol Genet. 2008;17(18):2894-9. doi:10.1093/hmg/ddn188. Epub 2008 Jul 01. PMID: 18596051.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.