Carasil

TEST CODE MG06230
TEST NAME Carasil
RELATED GENE HTRA1
SYNONYMOUS HTRA1
OMIM 600142
HEREDITY Autosomal Recessive
CLINICAL AREA CARASIL Syndrome is an Autosomal Recessively inherited disease. Mutations in the HTRA1 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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