Cockayne Syndrome

TEST CODE MG00800
TEST NAME Cockayne Syndrome
RELATED GENE ERCC8
SYNONYMOUS ERCC8
OMIM 216400
HEREDITY Autosomal Recessive
CLINICAL AREA Cockayne Syndrome (CSA) is an Autosomal Recessively inherited disease. Mutations in the ERCC8 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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