Pendred Syndrome SLC26A4

TEST CODE MG04160
TEST NAME Pendred Syndrome SLC26A4
RELATED GENE SLC26A4
SYNONYMOUS SLC26A4
OMIM 274600
HEREDITY Autosomal Recessive
CLINICAL AREA Pendred Syndrome is an autosomal recessively inherited disease. Mutations in the SLC26A4 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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