Progressive Erythrokeratoderma
TEST CODE | MG09450 |
TEST NAME | Progressive Erythrokeratoderma |
RELATED GENE | GJB4 |
SYNONYMOUS | GJB4 |
OMIM | 605425 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Progressive Erythrokeratoderma is an autosomal dominantly inherited disease. Mutations in the GJB4 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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