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HelpTest 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
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Hypercholesterolemia Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(12) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Sturm AC, Knowles JW, Gidding SS, et al. Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018;72(6):662-680. doi:10.1016/j.jacc.2018.05.044
2. Ison HE, Clarke SL, Knowles JW. Familial hypercholesterolemia. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2014. Updated July 7, 2022. Accessed May 7, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK174884/
3. Garcia CK, Wilund K, Arca M, et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001;292(5520):1394-1398
4. Norman D, Sun XM, Bourbon M, Knight BL, Naoumova RP, Soutar AK. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia: J Clin Invest. 1999;104(5):619-628
5. Pisciotta L, Priore Oliva C, Pes GM, et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison: Atherosclerosis. 2006;188(2):398-405
6. Junna N, Ruotsalainen S, Ripatti P, FinnGen, Ripatti S, Widen E. Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease: Atherosclerosis. 2023:117327
7. Tzavella E, Hatzimichael E, Kostara C, Bairaktari E, Elisaf M, Tsimihodimos V: Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences. J Clin Lipidol. 2017;11(4):1095-1100. doi:10.1016/j.jacl.2017.04.116
8. Hegele RA, Boren J, Ginsberg HN, et al. Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. Lancet Diabetes Endocrinol. 2020;8(1):50-67. doi:10.1016/S2213-8587(19)30264-5
9. Mani A, Radhakrishnan J, Wang H, et al. LRP6 mutation in a family with early coronary disease and metabolic risk factors [published correction appears in Science. 2013 Aug 30;341(6149):959]. Science. 2007;315(5816):1278-1282. doi:10.1126/science.1136370
10. Singh R, Smith E, Fathzadeh M, et al. Rare nonconservative LRP6 mutations are associated with metabolic syndrome. Hum Mutat. 2013;34(9):1221-1225. doi:10.1002/humu.22360
11. Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9:179. doi:10.1186/s13023-014-0179-4
12. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming 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
81406 x2
81407
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HCHLG | Hypercholesterolemia Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617268 | Test Description | 62364-5 |
| 617269 | Specimen | 31208-2 |
| 617270 | Source | 31208-2 |
| 617271 | Result Summary | 50397-9 |
| 617272 | Result | 82939-0 |
| 617273 | Interpretation | 69047-9 |
| 617274 | Additional Results | 82939-0 |
| 617275 | Resources | 99622-3 |
| 617276 | Additional Information | 48767-8 |
| 617277 | Method | 85069-3 |
| 617278 | Genes Analyzed | 48018-6 |
| 617279 | Disclaimer | 62364-5 |
| 617280 | Released By | 18771-6 |