Renal Tubular Acidosis Progressive Deafness (Autosomal Deafness)

TEST CODE MG02630
TEST NAME Renal Tubular Acidosis Progressive Deafness (Autosomal Deafness)
RELATED GENE ATP6V1B1
SYNONYMOUS ATP6V1B1
OMIM 267300
HEREDITY Autosomal Recessive
CLINICAL AREA Renal Tubular Acidosis Progressive Deafness (Autosomal Deafness) is an autosomal recessive inherited disease. Mutations in the ATP6V1B1 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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