Histidynaemia
TEST CODE | MG08900 |
TEST NAME | Histidynaemia |
RELATED GENE | HAL |
SYNONYMOUS | HAL |
OMIM | 609457 |
HEREDITY | Autosomal Recessive/ Autosomal Dominant |
CLINICAL AREA | Histidynaemia is a disease inherited in an autosomal dominant or autosomal recessive manner. Mutations in the HAL 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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