Congenital Ichthyosis Type 6

TEST CODE MG03460
TEST NAME Congenital Ichthyosis Type 6
RELATED GENE NIPAL4
SYNONYMOUS NIPAL4
OMIM 612281
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Ichthyosis Type 6 is an Autosomal Recessively inherited disease. Mutations in the NIPAL4 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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