Congenital Deafness (GJB2 Whole Gene Sequence Analysis)
| TEST CODE | MG05740 |
| TEST NAME | Congenital Deafness (GJB2 Whole Gene Sequence Analysis) |
| RELATED GENE | GJB2 |
| SYNONYMOUS | GJB2 |
| OMIM | 121011 |
| HEREDITY | Autosomal Recessive, Digenic Dominant, Autosomal Dominant |
| CLINICAL AREA | While Congenital Deafness is inherited in an Autosomal Recessive manner, it is rarely inherited in an Autosomal Dominant manner. Mutations in the GJB2 gene have been associated with Deafness 1A/3A. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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