Bartter Syndrome Type 1

TEST CODE MG00670
TEST NAME Bartter Syndrome Type 1
RELATED GENE SLC12A1
SYNONYMOUS SLC12A1
OMIM 601678
HEREDITY Autosomal Recessive
CLINICAL AREA Bartter Syndrome Type 1 (BARTS1) is an Autosomal Recessively inherited disease. Mutations in the SLC12A1 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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