Carnitine Deficiency

TEST CODE MG07940
TEST NAME Carnitine Deficiency
RELATED GENE SLC22A5
SYNONYMOUS SLC22A5
OMIM 603377
HEREDITY Autosomal Recessive
CLINICAL AREA Carnitine Deficiency is an Autosomal Recessively inherited disease. Mutations in the SLC22A5 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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