Home
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
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.
Special Instructions
Reporting Name
Hypercholesterolemia 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.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNAPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |
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.