Re: PC Adams. Genetic testing for hemochromatosis: Diagnostic or confirmatory test for iron overload? Can J Gastroenterol Hepatol 2015;29(1):15-6., Pulsus Group IncW FuPaediatrics & Child Health
Hereditary hemochromatosis: Aetna considers genetic testing for HFE gene mutations medically necessary for persons who meet any of the following criteria: Member who has symptoms consistent with iron overload and member who has 2 consecutive transferrin saturations of 45% or more or 2 consecutive or...
Such methods can be used to identify persons who are carriers for inherited conditions, such as hemophilia A, polycystic kidney disease, sickle cell anemia, Huntington disease, cystic fibrosis, and hemochromatosis. Biochemical tests Biochemical tests primarily detect enzymatic defects such as ...
It has been proposed that the gene for hemochromatosis, HFE, may be a modifier locus for CF disease phenotype. Recent research has suggested a relationship between mutations to the HFE gene and the development of meconium ileus (MI) and liver disease in CF. This study aims to expand our ...
Although some sites offered health-related genetic tests that are associated with routine clinical practice, includ- ing tests for hemochromatosis, cystic fibrosis, and alpha-1- antitrypsin deficiency, others offered more novel uses of ge- netic tests, including tests related to nutrition, skin care...
Background: A genetic test for hemochromatosis has allowed for the first time, genotypic identification of heterozygotes. The purpose of this study is to d... Paul,C,Adams - 《Clinical Genetics》 被引量: 190发表: 1998年 The Cost-Effectiveness of Screening for Hereditary Hemochromatosis in Germa...
Patient acceptability of genotypic testing for hemochromatosis in primary care. Gen Med 2005;7:557–563. 16. Reyes M, Dunet DO, Isenberg KB, Trisolini M, Wagener DK. Family-based detection for hereditary hemochromatosis. J Genet Couns 2008;17:92–100. 17. Faughnan ME, Palda VA, Garcia-...
Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific...
changes isfacilitatedby DNA probes that are labeled with radioactiveisotopesor fluorescent dyes. Such methods can be used to identify persons who are carriers for inherited conditions, such ashemophiliaA, polycystic kidney disease,sickle cell anemia,Huntington disease,cystic fibrosis, andhemochromatosis. ...
A large-scale study has found that some people whose genetics are linked to the common iron overload condition hemochromatosis have substantially greater levels of liver, musculoskeletal and brain disease than previously reported, especially at older age