Beckwith-Wiedemann Syndrome

TEST CODE MG04050
TEST NAME Beckwith-Wiedemann Syndrome
RELATED GENE CDKN1C
SYNONYMOUS CDKN1C
OMIM 130650
HEREDITY Autosomal Dominant
CLINICAL AREA Beckwith – Wiedemann Syndrome is an autosomal dominantly inherited disease. Mutations in the CDKN1C 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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