Spinocerebellar Ataxia Type 1

TEST CODE MG08820
TEST NAME Spinocerebellar Ataxia Type 1
RELATED GENE TDP1
SYNONYMOUS TDP1
OMIM 607198
HEREDITY Autosomal Recessive
CLINICAL AREA Spinocerebellar Ataxia Type 1 is an Autosomal Recessively inherited disease. Mutations in the TDP1 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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