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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