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Geisinger Medical Laboratories Test Catalog
DFNB1 AUTOSOMAL RECESSIVE HEARING LOSS,GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB4019 Geisinger Epic ID: 167525 | |
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): |
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 |
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Synonyms: |
GeneDx code TA49, Connexin testing
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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). | |