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Description:The Oculo-Cerebro-Renal Syndrome of Lowe (OCRL, Lowe Syndrome) is a multisystem disorder characterized by neuromuscular hypotonia and failure to thrive, congenital dense cataracts (and risk for infantile glaucoma), renal failure associated with broad-spectrum aminoaciduria, rickets, and mental and developmental retardation. The disease is inherited as an X-linked trait. The OCRL gene encodes an enzyme, phosphatidylinositol-4, 5-bisphosphate phosphatase, that is involved in inositol metabolism. This assay utilizes a radiolabeled substrate and the conversion of substrate to product is measured following separation by thin layer chromatography. Specimen Requirements:The assay is performed on cultured skin fibroblasts only. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier. Contact the laboratory for information regarding prenatal diagnosis studies. Prenatal diagnosis for Lowe syndrome can be performed on cultured amniocytes or chorionic villus cells. Prior approval by the laboratory is required. Normal Range:Skin Fibroblasts: 2-5 nmoles/min/mg protein Turnaround Time:Amniotic Cell
Culture, Cultured Chorionic Villus Cells: 3
weeks CPT Codes and Prices:Amniotic Cell Culture: 82489x2,
82658x2, 84155x2, 88235x5, 88240x2, 83891x2, 83894x8, 83901x8, 83912x2 Shipping InformationForms: >> Biochemical
Requisition Test Codes:Amniotic Cell Culture: 4583 |