DNA testing for haemochromatosis: diagnostic, predictive and screening implica- tions. Pathology 2000;32(4):274-279.Trent, R.T., Le, H., Yu, B., Young, G., Bowden, D.K., 2000. DNA testing for hemochromatosis: diagnostic, predictive and screening implications. Pathology 32, 274 A/...
Aetna considers APC genetic testing experimental, investigational, or unproven for all other indications because its effectiveness for indications other than the ones listed above has not been established. Androgen insensitivity syndrome (AIS): Aetna considers AR (androgen receptor) gene sequence analysis ...
ARTICLE Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis Subhashini Chandrasekharan, PhD1, Emily Pitlick, JD2, Christopher Heaney, BA1, and Robert Cook-Deegan, MD1 Abstract: Hereditary hemochromatosis is an iron metabolism disorder that leads ...
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 ...
Hereditary hemochromatosis in Spain. The C282Y mutation of the HFE gene has been reported as the main cause of hereditary hemochromatosis (HH). Another missense mutation (H63D) has also been detected at an increased frequency in a compound heterozygote state with the C282Y ... M Sánchez,M ...
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...
Hemochromatosis mutation in persons who meet criteria for genetic testing for hereditary hemochromatosis in CPB 0140 - Genetic Testing Hemorrhagic fevers and related syndromes caused by viruses of the family Bunyaviridae (Rift Valley fever, Crimean-Congo hemorrhagic fever, hemorrhagic fever with renal syndr...
The ACCE project addressed five clinical scenarios, in- volving tests for genotypes associated with cystic fibrosis, breast and ovarian cancer, hemochromatosis, venous thromboembo- lism, and colorectal cancer. Although the primary focus of clinical utility in the ACCE framework was put on the use ...
For example, an individual with a mutation in BRCA1 has a 65% cumulative risk of breast cancer. 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 ...
48.Why Do People Choose Not to Have Screening for Hemochromatosis? 机译:人们为什么选择不筛查血色素沉着病? 作者:Michelle Wolthuizen;Amy Nisselle;Jane Halliday;Sylvia A. Metcalfe;MaryAnne Aitken;Katie J. Allen;Martin B. Delatycki 期刊名称:《Genetic testing and molecular biomarkers》 | 2013年第...