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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