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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL, GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB4042 Geisinger Epic ID: 167411 | |
SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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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 |
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Synonyms: |
GeneDx J556, FH, FAMILIAL HYPERCHOLESTEROLEMIA, FAMILIAL HYPERLIPIDEMIA
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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. | |