Waardenburg Syndrome Type1/Type3

TEST CODE MG02980
TEST NAME Waardenburg Syndrome Type1/Type3
RELATED GENE PAX3
SYNONYMOUS PAX3
OMIM 148820
HEREDITY Autosomal Dominant / Autosomal Recessive
CLINICAL AREA Waardenburg Syndrome Type 1/Type 3 is an autosomal recessive or dominantly inherited disease. Mutations in the PAX3 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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