Osteogenesis Imperfecta Type 2

TEST CODE MG02340
TEST NAME Osteogenesis Imperfecta Type 2
RELATED GENE COL1A2
SYNONYMOUS COL1A2
OMIM 166210
HEREDITY Autosomal Dominant
CLINICAL AREA Osteogenesis Imperfecta Type 2 is an Autosomal Dominant inherited disease. Mutations in the COL1A2 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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