Episodic Ataxia Type 5

TEST CODE MG05210
TEST NAME Episodic Ataxia Type 5
RELATED GENE CACNB4
SYNONYMOUS CACNB4
OMIM 613855
HEREDITY Autosomal Dominant
CLINICAL AREA Episodic Ataxia Type 5 is an Autosomal Dominant inherited disease. Mutations in the CACNB4 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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