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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