Waardenburg Syndrome Type 4 A

TEST CODE MG02990
TEST NAME Waardenburg Syndrome Type 4 A
RELATED GENE EDNRB
SYNONYMOUS EDNRB
OMIM 277580
HEREDITY Autosomal Dominant / Autosomal Recessive
CLINICAL AREA Waardenburg Syndrome Type 4A is an autosomal recessive or dominantly inherited disease. Mutations in the EDNRB 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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