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Geisinger Medical Laboratories Test Catalog
HYPERTROPHIC CARDIOMYOPATHY (HCM) SEQUENCING AND DELETION/DUPLICATION PANEL |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2507 Geisinger Epic ID: 47628 | |
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): |
81405, 81406, 81407 x2 | |
| 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. | ||
Methodology: |
Deletion/Duplication Analysis Next Generation Sequencing |
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Synonyms: |
GeneDx code J553 HCMPNL
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Clinical significance: |
Confirmation of clinical diagnosis in symptomatic patients. Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM. Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis). | |