FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

Test Code

LAB4006

Quest Code

94877

CPT Codes
81405, 81406 (x2), 81407, 81479 CPT coding may differ dependent on payer rules which may impact prior authorization testing. Please direct any questions regarding CPT coding to the payer being billed. ⁠⁠⁠⁠⁠⁠⁠ 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.

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 Container

EDTA (lavender-top) or ACD (yellow-top) tube

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
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.

This test is not available for California or Nevada patient testing.

Setup Schedule

Tues

Reference Range

See Laboratory Report

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. This test includes comprehensive analysis of these three genes.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: June 16, 2022

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.