Hyaline Fibromatosis Syndrome

TEST CODE MG09730
TEST NAME Hyaline Fibromatosis Syndrome
RELATED GENE ANTXR2
SYNONYMOUS ANTXR2
OMIM 228600
HEREDITY Autosomal Recessive
CLINICAL AREA Hyaline Fibromatosis Syndrome is an autosomal recessively inherited disease. Mutations in the ANTXR2 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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