Non-Syndromic Hearing Loss (GJB6) Deletion

TEST CODE MG05750
TEST NAME Non-Syndromic Hearing Loss (GJB6) Deletion
RELATED GENE GJB6
SYNONYMOUS GJB6
OMIM 604418
HEREDITY Autosomal Recessive, Digenic Dominant, Autosomal Dominant
CLINICAL AREA Non-Syndromic Hearing Loss is inherited in an Autosomal Dominant manner. Mutations in the GJB6 gene have been associated with Non-Syndromic Hearing Loss, Cloustan Syndrome.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 ml
TAT 40 DAYS

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