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Specimen Collection Manual and Test Catalog

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DFNB1 AUTOSOMAL RECESSIVE HEARING LOSS,GENEDX

Geisinger Epic Procedure Code:  LAB4019    Geisinger Epic ID:  167525
Test Restriction:  ORDER LIMITED TO GENETICS, ENT

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):  81252x1; 81254x1
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).


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

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