Cobalamin Metabolism Disorder

TEST CODE MG09220
TEST NAME Cobalamin Metabolism Disorder
RELATED GENE MTR
SYNONYMOUS MTR
OMIM 250940
HEREDITY Autosomal Recessive
CLINICAL AREA Cobalamin Metabolism Disorder is an autosomal recessive disease. Mutations in the MTR 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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