Congenital Ichthyosis

TEST CODE MG03800
TEST NAME Congenital Ichthyosis
RELATED GENE TGM1
SYNONYMOUS TGM1
OMIM 242300
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Ichthyosis is an Autosomal Recessively inherited disease. Mutations in the TGM1 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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