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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