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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