Familial primary pulmonary hypertension 1

TEST CODE MG10050
TEST NAME Familial primary pulmonary hypertension 1
RELATED GENE BMPR2
SYNONYMOUS BMPR2
OMIM 178600
HEREDITY Autosomal Dominant
CLINICAL AREA Familial primary pulmonary hypertension 1 is an autosomal dominantly inherited disease. Mutations in the BMPR2 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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