Lysinuric Protein Intolerance

TEST CODE MG07720
TEST NAME Lysinuric Protein Intolerance
RELATED GENE SLC7A7
SYNONYMOUS SLC7A7
OMIM 603593
HEREDITY Autosomal Recessive
CLINICAL AREA Lysinuric Protein Intolerance is an Autosomal Recessively inherited disease. Mutations in the SLC7A7 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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