Pseudohypoparathyroidism Type IB
TEST CODE | MG09790 |
TEST NAME | Pseudohypoparathyroidism Type IB |
RELATED GENE | STX16 |
SYNONYMOUS | STX16 |
OMIM | 603233 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Pseudohypoparathyroidism Type IB is an autosomal dominantly inherited disease. Mutations in the STX16 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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