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HelpTest Code HYPTG Hypertriglyceridemia Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. or more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.
The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Hereditary Dyslipidemia Patient Information
3. Hypertriglyceridemia Gene Panel (HYPTG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Secondary ID
617323Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Hypertriglyceridemia Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Hypertriglyceridemia (HTG), or abnormally elevated triglyceride concentration in the blood, is present in approximately 30% of adults in the United States.(1) HTG is frequently associated with other abnormalities such as abdominal obesity, insulin resistance, low high-density lipoprotein (HDL), and hypertension, which are linked to coronary artery disease and metabolic syndrome. Severe hypertriglyceridemia is associated with an increased risk of acute pancreatitis.
Hypertriglyceridemia can be classified into primary and secondary types. Primary hypertriglyceridemia accounts for less than 5% of cases and is due to rare, monogenic conditions with disease-causing variants resulting in disordered triglyceride metabolism.(2) The majority of hypertriglyceridemia is secondary hypertriglyceridemia, due to a combination of lifestyle factors such as high fat diet, obesity, diabetes, hypothyroidism, or certain medications, in addition to various common, low impact genetic variants that cumulatively have an impact on triglyceride metabolism.
This test includes analysis of several genes associated with monogenic forms of primary hypertriglyceridemia and related conditions. Autosomal recessive conditions tested for by this panel include combined lipase deficiency (LMF1), hepatic lipase deficiency (LIPC), lysosomal acid lipase deficiency (also known as Wolman disease) and cholesteryl ester storage disease (LIPA), lecithin:cholesterol acyltransferase deficiency (also known as Norum disease or fish-eye disease) (LCAT), hyperlipoproteinemia type 1b (APOC2), transient infantile hypertriglyceridemia (GPD1), hyperlipoproteinemia type ID (GPIHBP1), and lipoprotein lipase deficiency (LPL). Autosomal dominant conditions tested for by this panel include familial hypertriglyceridemia and late onset hyperchylomicronemia (APOA5), hypertriglyceridemia 2 (CREB3L3), and familial combined hyperlipidemia (LPL). In addition, this test reports homozygous status for the APOE E2 allele, a risk allele for type III hyperlipoproteinemia.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Hypertriglyceridemia Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed: APOA5, APOC2, APOE, CREB3L3, GPD1, GPIHBP1, LCAT, LIPA, LIPC, LMF1, LPL, and LRP6
Day(s) Performed
Varies
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HYPTG | Hypertriglyceridemia Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617324 | Test Description | 62364-5 |
| 617325 | Specimen | 31208-2 |
| 617326 | Source | 31208-2 |
| 617327 | Result Summary | 50397-9 |
| 617328 | Result | 82939-0 |
| 617329 | Interpretation | 69047-9 |
| 617330 | Additional Results | 82939-0 |
| 617331 | Resources | 99622-3 |
| 617332 | Additional Information | 48767-8 |
| 617333 | Method | 85069-3 |
| 617334 | Genes Analyzed | 48018-6 |
| 617335 | Disclaimer | 62364-5 |
| 617336 | Released By | 18771-6 |
Prior Authorization
Insurance preauthorization is available for this testing; forms are available.
Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.