Review Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas

Cystic fibrosis (CF) is an autosomal recessive disorder with significantly higher associated morbidity and mortality. It is now recognized that extensive phenotypic CF profiles can not be accounted for by clear genotype-phenotype correlations, suggesting that CF transmembrane conductance regulator (CFTR) related diseases can arise from various additive effects . These contributory effects include complex CFTR alleles, altered genes, mutational genetic alterations that produce CF-like phenotypes, epigenetic factors, and environmental influences. Most patients in the United States currently use neonatal screening and molecular detection methods for diagnosis. We reviewed molecular test methods and laboratory guidelines for vector screening, prenatal testing, neonatal screening, and clinical diagnostic tests, recent advances in CF therapy, and reasons for lack of molecular diagnosis in some patients did.

Methodological approaches include literature review methods exploring the available causes of cystic fibrosis problems from a global and specific perspective. The search was done in databases such as PubMed, MEDLINE, Web of Science, Scopus, Springer, ScienceDirect and so on. In addition, other sources cited in analytical studies were also analyzed. Based on the evaluation of these documents, research issues are being debated. Main benefits (such as new therapy centers for CF or new advances in CF gene therapy) and limitations (eg CF comorbidity, life-long costly treatment, or adverse effects on the quality of patients and caregivers) Handling of obstacles Stand out

Cystic fibrosis (CF) is an autosomal recessive disorder with significantly higher associated morbidity and mortality. It is now recognized that extensive phenotypic CF profiles can not be accounted for by clear genotype-phenotype correlations, suggesting that CF transmembrane conductance regulator (CFTR) related diseases can arise from various additive effects . These contributory effects include complex CFTR alleles, altered genes, mutational genetic alterations that produce CF-like phenotypes, epigenetic factors, and environmental influences. Most patients in the United States currently use neonatal screening and molecular detection methods for diagnosis. We reviewed molecular test methods and laboratory guidelines for vector screening, prenatal testing, neonatal screening, and clinical diagnostic tests, recent advances in CF therapy, and reasons for lack of molecular diagnosis in some patients did.

Review of cystic fibrosis: review of related phenotypes, use of molecular diagnostics, genetic traits, progression and dilemmas

The rapid growth of new molecular genetic tests stimulated by the diagnostic ability of DNA / RNA analysis has led to the American Medical Association's current program term (CPT) code and the ability of molecular genetic testing techniques beyond Medicare redemption It was. The AMA CPT editing team is preparing to change the way we report genetic tests. It may help the government review how Medicare will pay for diagnostic genetic testing. Genetic testing is expensive and laboratory managers need to understand the potential changes that may affect the ability to provide genetic testing services to their physician's customers. Commercialization of genetic testing has been rapidly increasing in commercial laboratories and university medical center laboratories, and it can conduct very complicated examination of CLIA certification to provide some degree of genetic testing.