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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