Ichthyosis Histrix

TEST CODE MG04230
TEST NAME Ichthyosis Histrix
RELATED GENE KRT1
SYNONYMOUS KRT1
OMIM 146590
HEREDITY Autosomal Dominant
CLINICAL AREA Curth-Macklin Type Ichthyosis Histrix is an autosomal dominantly inherited disease. Mutations in the KRT1 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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