Cystinosis

TEST CODE MG02720
TEST NAME Cystinosis
RELATED GENE CTNS
SYNONYMOUS CTNS
OMIM 606272
HEREDITY Autosomal Recessive
CLINICAL AREA Cystinosis is an autosomal recessively inherited disease. Mutations in the CTNS gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Serum
QUANTITY 3 mL
TAT 40 DAYS

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