L-2 Hydroxy Glutaric Aciduria

TEST CODE MG08560
TEST NAME L-2 Hydroxy Glutaric Aciduria
RELATED GENE L2HGDH
SYNONYMOUS L2HGDH
OMIM 609584
HEREDITY Autosomal Recessive
CLINICAL AREA L-2 Hydroxy Glutaric Aciduria is an Autosomal Recessively inherited disease. Mutations in the L2HGDH 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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