Thiamine Metabolism Dysfunction Syndrome 2

TEST CODE MG04980
TEST NAME Thiamine Metabolism Dysfunction Syndrome 2
RELATED GENE SLC19A3
SYNONYMOUS SLC19A3
OMIM 607483
HEREDITY Autosomal Recessive
CLINICAL AREA Thiamine Metabolism Dysfunction Syndrome 2 is an Autosomal Recessively inherited disease. Mutations in the SLC19A3 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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