More evidence is needed to determine whether alternative approaches to the implementation of genetic testing for FH may be more effective.doi:10.1007/s11883-023-01094-2Eric P. TricouFamily Heart Foundation Pasadena CA USAKelly M. Morgangrid.280776.c0000 0004 0394 1447Genomic Medicine Institute ...
Genetic testing for FH is not commonly used in Asian countries. We aimed to define the genetic spectrum of FH in Hong Kong and to test the feasibility of cascade genetic screening. METHODS: Ninety-six Chinese subjects with a clinical diagnosis of FH were recruited, and family-based cascade ...
Genetic testing can be important in screening, diagnosis, and potentially in treatment of lipid disorders, particularly for familial hypercholesterolemia (FH), familial chylomicronemia syndrome (FCS) and sitosterolemia. FCSNext: Familial chylomicronemia syndrome is a rare genetic disease characterized by ...
Background/Synopsis Genetic testing for inherited lipid disorders can facilitate diagnosis, treatment, and family cascade screening. Of the known monogenic dyslipidemias, familial hypercholesteremia (FH) is the most common. FH is caused by inherited pathogenic variants in LDLR, APOB, PCSK9, and ...
Although genetic testing for FH, when available and affordable, should ideally be offered to most individuals with clinical phenotype suggestive of FH, it is underutilized in most countries. Therefore, FH diagnosis in the majority of cases is made by combining cholesterol levels and clinical ...
Summary Familial hypercholesterolemia (FH) is caused predominately by variants in the low-density lipoprotein receptor gene ( LDLR ). We report here an upd... E Usifo,SEA Leigh,RA Whittall,... - 《Annals of Human Genetics》 被引量: 200发表: 2015年 Molecular genetic testing for familial hy...
Global interest in genetic-testing for Cancer-Susceptibility-Genes (CSG) has surged with falling costs, increasing awareness and celebrity endorsement. Current access to genetic-testing is based on clinical-criteria/risk-model assessment which uses family-history (FH) as a surrogate. However, this ap...
Bapat B. Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis.Gut,44(1999) 698–703. ArticlePubMedCASGoogle Scholar Lerman C. Genetic testing in families with hereditary nonpolyposis colon cancer.JAMA,281(1999) 1618–1622. ...
All cases of PPGL are recommended genetic testing for germ line variants regardless of patient and family characteristics. At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first‐...
Although genetic testing is an important tool for detecting FH-causing mutations in patients, diagnostic methods for young patients with severe hypercholesterolemia are understudied. This study compares the target exome sequencing (TES) technique with the DNA resequencing array technique on young patients...