Transcobalamin II Deficiency

TEST CODE MG06500
TEST NAME Transcobalamin II Deficiency
RELATED GENE TCN2
SYNONYMOUS TCN2
OMIM 275350
HEREDITY Autosomal Recessive
CLINICAL AREA Transcobalamin II Deficiency is an Autosomal Recessively inherited disease. Mutations in the TCN2 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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