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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