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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