Glutaric Acidemia Type 2C (ETFDH Whole Gene Sequence An.)

TEST CODE MG05760
TEST NAME Glutaric Acidemia Type 2C (ETFDH Whole Gene Sequence An.)
RELATED GENE ETFDH
SYNONYMOUS ETFDH
OMIM 231680
HEREDITY Autosomal Recessive
CLINICAL AREA Glutaric Acidemia Type 2C is an Autosomal Recessively inherited disease. Mutations in the ETFDH 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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