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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