Hypercholesterolemia Gene Panel, Varies
Use
The Hypercholesterolemia Gene Panel is used for genetic evaluation of patients with personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia. It aids in diagnosing FH, sitosterolemia, and other monogenic forms that can lead to elevated cholesterol, increasing the risk of premature cardiovascular disease. By identifying disease-causing variants, this test assists with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Special Instructions
Prior Authorization is available for this assay but not required. If proceeding with the process, submit the required form with the specimen. New York Clients must provide informed consent. Discuss additional testing options with Mayo Clinic Laboratories genetic counselors if needed.
Limitations
The test is not designed to detect all genomic variants, being limited by next-generation sequencing (NGS) and its ability to cover certain genomic regions. False-negative or false-positive results are possible if depth of coverage is insufficient. Single exon resolution may sometimes not be achieved due to sequence coverage reduction or genomic complexity. This test does not differentiate between somatic mutations and germline variants, and detection may be impacted by recent bone marrow transplants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107543-1
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); Acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |