Osteopetrosis (Type AR1)

TEST CODE MG02360
TEST NAME Osteopetrosis (Type AR1)
RELATED GENE TCIRG1
SYNONYMOUS TCIRG1
OMIM 259700
HEREDITY Autosomal Recessive
CLINICAL AREA Osteopetrosis (Type AR1) is an autosomal recessively inherited disease. Mutations in the TCIRG1 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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