Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

HYPERTROPHIC CARDIOMYOPATHY (HCM) PANEL, GENEDX

ORDERING INFORMATION:
Sunquest Test Code:
HCMPNL      Geisinger Epic Procedure Code: HCMPNL         Geisinger Epic ID: 47628

SPECIMEN COLLECTION
Specimen type:
EDTA whole blood (preferred) OR 2 buccal swabs OR 30-40 mL oral rinse
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 OR 30-40 mL oral rinse.

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

TEST DETAILS
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
Synonyms:
GeneDx code 523
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).

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Turnaround Time: 4 weeks    
Performed stat? No
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