Osteopetrosis, OSTM1

TEST CODE MG06750
TEST NAME Osteopetrosis, OSTM1
RELATED GENE OSTM1
SYNONYMOUS OSTM1
OMIM 259720
HEREDITY Autosomal Recessive
CLINICAL AREA Osteopetrosis is an autosomal recessively inherited disease. Mutations in the OSTM1 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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