Cockayne Syndrome
TEST CODE | MG08880 |
TEST NAME | Cockayne Syndrome |
RELATED GENE | ERCC6 |
SYNONYMOUS | ERCC6 |
OMIM | 133540 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Cockayne Syndrome is an autosomal recessive disease. Mutations in the ERCC6 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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