Bartter Syndrome, Type 3

TEST CODE MG07600
TEST NAME Bartter Syndrome, Type 3
RELATED GENE CLCNKB
SYNONYMOUS CLCNKB
OMIM 602023
HEREDITY Autosomal Recessive
CLINICAL AREA Bartter Syndrome Type 3 is an Autosomal Recessively inherited disease. Mutations in the CLCNKB 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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