Hyperekplexia 1

TEST CODE MG07900
TEST NAME Hyperekplexia 1
RELATED GENE GLRA1
SYNONYMOUS GLRA1
OMIM 138491
HEREDITY Autosomal Dominant /Autosomal Recessive
CLINICAL AREA Hyperekplexia 1 is a disease that is inherited as Autosomal Dominant or Autosomal Recessive. Mutations in the GLRA1 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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