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Test Code HCHLG Hypercholesterolemia Gene Panel, Varies


Ordering Guidance


Customization of this panel and single gene analysis for any gene present on this panel are available. For 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. Hypercholesterolemia Gene Panel (HCHLG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia

 

Establishing a diagnosis of FH, sitosterolemia, or other monogenic forms of inherited hypercholesterolemia

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 12 genes associated with familial hypercholesterolemia (FH), sitosterolemia, and other monogenic forms of inherited hypercholesterolemia: ABCG5, ABCG8, APOB, APOE, CETP, CYP27A1, LDLR, LDLRAP1, LIPA, LPL, LRP6, and PCSK9. See Targeted Genes and Methodology Details for Hypercholesterolemia Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for FH, sitosterolemia, and other monogenic forms of inherited hypercholesterolemia.

 

This test also reports homozygous status for the APOE E2 allele, a risk allele for type III hyperlipoproteinemia. This test does NOT report other, non-cardiovascular APOE disease associations, including Alzheimer disease.

 

Prior Authorization is available for this assay.

Method Name

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

Reporting Name

Hypercholesterolemia Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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

CPT Code Information

81406 x2

81407

81479

81479 (if appropriate for government payers)