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Familial Hypercholesterolemia (FH), Single Site
Test Code94878
CPT Codes
81403<br /> ** This test is not available for California or Nevada patient testing. **
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
If more than one gene single site is performed, it will be added at an additional charge (CPT code(s): 81403)
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) or ACD (yellow-top) tube
Minimum Volume
2 mL
Instructions
Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. Send completed Clinical History Form and test results of any family member with a known pathogenic variant.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis • Clotted
Methodology
Next Generation Sequencing with Microarray Confirmation
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics . It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
A.M. Sets up 1 day a week.
Report Available
Reports in 14 to 28 days.
Clinical Significance
Familial hypercholesterolemia (FH) is characterized by high levels of LDL cholesterol (LDL-C). Elevated levels of LDL-C cause an increased risk for premature coronary artery disease, which can result in myocardial infarction. Individuals with FH may also develop visible lipid deposits in the tendons (tendon xanthoma) or eyes (corneal arcus).
The LDLR, APOB, and PCSK9 genes are associated with familial hypercholesterolemia. When a patient has a relative who carries at least one pathogenic variant in a gene associated with FH, single site testing may be appropriate. This test determines the presence or absence of familial variant(s). Of note, a copy of the patient’s relative’s positive genetic test result must accompany the specimen.
The LDLR, APOB, and PCSK9 genes are associated with familial hypercholesterolemia. When a patient has a relative who carries at least one pathogenic variant in a gene associated with FH, single site testing may be appropriate. This test determines the presence or absence of familial variant(s). Of note, a copy of the patient’s relative’s positive genetic test result must accompany the specimen.
