Osteogenesis Imperfecta Type 19

TEST CODE MG09690
TEST NAME Osteogenesis Imperfecta Type 19
RELATED GENE MBTPS2
SYNONYMOUS MBTPS2
OMIM 301014
HEREDITY X Linked Recessive
CLINICAL AREA Osteogenesis Imperfecta Type 19 is an X-linked recessively inherited disease. Mutations in the MBTPS2 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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