Branchio Okulo Facial Syndrome

TEST CODE MG04830
TEST NAME Branchio Okulo Facial Syndrome
RELATED GENE TFAP2A
SYNONYMOUS TFAP2A
OMIM 113620
HEREDITY Autosomal Dominant
CLINICAL AREA Branchio Oculo Facial Syndrome is an autosomal dominantly inherited disease. Mutations in the TFAP2A gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 30 DAYS

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