Congenital Ichthyosis Type 3

TEST CODE MG01380
TEST NAME Congenital Ichthyosis Type 3
RELATED GENE ALOXE3
SYNONYMOUS ALOXE3
OMIM 606545
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Ichthyosis Type 3 (ARCI3) is an Autosomal Recessively inherited disease. Mutations in the ALOXE3 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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