Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

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

DFNB1 AUTOSOMAL RECESSIVE HEARING LOSS,GENEDX

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB4019         Geisinger Epic ID: 167525

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):
81252
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:
GJB2 (Cx26), GJB6
Methodology:
Capillary Sequencing
Synonyms:
GeneDx code TA49, Connexin testing
Clinical significance:
Confirmation of a clinical diagnosis Assistance with decisions about treatment and management Distinguishing between non-syndromic hearing loss other and forms of hearing loss Defining the inheritance pattern in the family or individual Allowing for testing of at-risk relatives and prenatal diagnosis in families with known pathogenic variant(s).

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Report available: 3 weeks    
Performed STAT? No
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