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Test 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.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Hypertriglyceridemia Gene Panel

Specimen Type

Varies

Specimen 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.

Day(s) Performed

Varies

Report Available

28 to 42 days

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