MARFAN Syndrome Type 2

TEST CODE MG01800
TEST NAME MARFAN Syndrome Type 2
RELATED GENE TGFBR2
SYNONYMOUS TGFBR2
OMIM 610168
HEREDITY Autosomal Dominant
CLINICAL AREA MARFAN Syndrome Type 2 is an Autosomal Dominant inherited disease. Mutations in the TGFBR2 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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