MTC1 Deficiency

TEST CODE MG04480
TEST NAME MTC1 Deficiency
RELATED GENE SLC16A1
SYNONYMOUS SLC16A1
OMIM 616095
HEREDITY Autosomal Dominant/Autosomal Recessive
CLINICAL AREA Monocarboxylate Transporter Deficiency is a disease inherited as autosomal dominant or autosomal recessive. Mutations in the SLC16A1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE EDTALI KAN
QUANTITY 3 mL
TAT 40 DAYS

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