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Specimen Collection Manual and Test Catalog

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FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL, GENEDX

Geisinger Epic Procedure Code:  LAB4042    Geisinger Epic ID:  167411
Test Restriction:  ORDER LIMITED TO GENETICS AND CARDIOLOGY

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):  81405x1, 81406x2, 81407x1, 81479x3
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.


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/16/2024

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