Kaufman Oculocerebofacial Syndrome

TEST CODE MG04800
TEST NAME Kaufman Oculocerebofacial Syndrome
RELATED GENE UBE3B
SYNONYMOUS UBE3B
OMIM 244450
HEREDITY Autosomal Recessive
CLINICAL AREA Kaufman Oculocerebofacial Syndrome is an Autosomal Recessively inherited disease. Mutations in the UBE3B 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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