Dystonia Type 6 - THAP1

TEST CODE MG03350
TEST NAME Dystonia Type 6 – THAP1
RELATED GENE THAP1
SYNONYMOUS THAP1
OMIM 602629
HEREDITY Autosomal Dominant
CLINICAL AREA Dystonia Type 6 is an Autosomal Dominant inherited disease. Mutations in the THAP1 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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