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94878: Familial Hypercholesterolemia (fh), Single Site Print View
Result      
Gene Requested      
Variant Requested      
Interpretation      
Gene Requested 2      
Variant Requested 2      
Interpretation 2      
Clinical Interpretation      
Variant Interpretation      
Reviewer      
Method and Limitation      
Additional Information      
Resources      

PRIMARY
1 Whole Blood EDTA 5 (2) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
ALTERNATE
  Whole Blood ACD Sol A 5 (2) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol B 5 (2) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  

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 of 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.

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.
Setup Schedule
Tuesday

Reported (Analytical Time)
14 days

CPT Code
81403x2

The CPT codes provided 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 payer being billed.

Notes
**This test is not available for New York patient testing.**

Transport Temperature: Room temperature
Reject Criteria: Gross hemolysis; clotted
Methodology: Next Generation Sequencing with Microarray Confirmation

Report available: 14 days from completed pre-authorization

Additional Information:
If more than one gene single site is performed, additional CPT 81403 will be added at an additional charge.






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