Glutaric Aciduria Type 1
TEST CODE | MG04030 |
TEST NAME | Glutaric Aciduria Type 1 |
RELATED GENE | GCDH |
SYNONYMOUS | GCDH |
OMIM | 231670 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Glutaric Aciduria Type 1 is an Autosomal Recessively inherited disease. Mutations in the GCDH 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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