7230 Connexin 26 GenotypR™

Components
NAME METHOD REFERENCE RANGE UNITS
Connexin 26 Genotype INVADER     


Specimen Requirements
TYPE VOLUME TEMPERATURE INSTRUCTIONS
PRIMARY
1 Whole Blood EDTA 5 (3) mL   Ambient - 7 Day(s), Refrigerated - 7 Day(s)  


Clinical utility
Test detects the most common Connexin 26 mutations in the GJB2 gene (35delG and 167delT). Up to 50% of prelingual, recessive, non-syndromic deafness can be attributed to mutations in GJB2. Although a broad spectrum of recessive deafness mutations in the GJB2 gene is known, the 35delG mutation is very frequent in populations of European origin (2-3%) while the 17delT mutation is found in the Ashkenazi Jewish population with a frequency of 5%.


Reported: 3 days

CPT Code: 83891, 83892x4, 83896x10, 83903x2, 83908x2, 83912

Notes: CPT Codes: 83891, 83892x4, 83896x10, 83903x2, 83908x2, 83912 Informed consent is required for residents of New York. Consent form is available on our website: www.specialtylabs.com.