Cystinuria

TEST CODE MG06590
TEST NAME Cystinuria
RELATED GENE SLC3A1
SYNONYMOUS SLC3A1
OMIM 220100
HEREDITY Autosomal Dominant/ Autosomal Recessive
CLINICAL AREA Cystinuria is a disease inherited as Autosomal Recessive or Autosomal Dominant. Mutations in the FOLR1 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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