Dystonia Type 5

TEST CODE MG08190
TEST NAME Dystonia Type 5
RELATED GENE GCH1
SYNONYMOUS GCH1
OMIM 128230
HEREDITY Autosomal Dominant/ Autosomal Recessive
CLINICAL AREA Dystonia Type 5 is a disease that is inherited as Autosomal Dominant or Autosomal Recessive. Mutations in the GCH1 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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