Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL, GENEDX

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB4042         Geisinger Epic ID: 167411

SPECIMEN COLLECTION
Specimen type:
EDTA whole blood (preferred) OR 2 buccal swabs
Preferred collection container:
Alternate Collection Container:
3 mL lavender-top (K2 EDTA) tube
Specimen required:
2-5 mL EDTA whole blood OR 2 buccal swabs

SPECIMEN PROCESSING
Transport temperature:
Refrigerated.
Specimen stability:
Refrigerated: 7 days.

TEST DETAILS
CPT code(s):
81406x2, 81405x1, 81401x1
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.  The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Test includes:
APOB, LDLR, LDLRAP1, PCSK9
Methodology:
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms:
GeneDx J556, FH, FAMILIAL HYPERCHOLESTEROLEMIA, FAMILIAL HYPERLIPIDEMIA
Clinical significance:
Molecular confirmation of a clinical diagnosis in symptomatic individuals. Risk assessment of asymptomatic family members of a proband diagnosed with FH. Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia. Genetic counseling and recurrence risk assessment.

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Results available: 4 weeks    
Performed STAT? No
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