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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