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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes Jun 2020Identification of the cystic fibrosis transmembrane conductance regulator gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis,... (Review)
Review
Identification of the cystic fibrosis transmembrane conductance regulator gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of molecular diagnosis of CF and CFTR-related disorders and of genetic counseling are here reviewed. Technological advances have enabled to make a diagnosis of CF with a sensitivity of 99% by using next generation sequencing in a single step. The detection of heretofore unidentified variants and ethnic-specific variants remains challenging, especially for newborn screening (NBS), CF carrier testing and genotype-guided therapy. Among the criteria for assessing the impact of variants, population genetics data are insufficiently taken into account and the penetrance of CF associated with variants remains poorly known. The huge diversity of diagnostic and genetic counseling indications for studies makes assessment of variant disease-liability critical. This is especially discussed in the perspective of wide genome analyses for NBS and CF carrier screening in the general population, as future challenges.
Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Counseling; Genotype; Humans; Infant, Newborn; Neonatal Screening; Pathology, Molecular; Penetrance
PubMed: 32512765
DOI: 10.3390/genes11060619 -
Journal of Fungi (Basel, Switzerland) Dec 2022Diagnosis of endemic mycoses is still challenging. The moderated availability of reliable diagnostic methods, the lack of clinical suspicion out of endemic areas and the... (Review)
Review
Diagnosis of endemic mycoses is still challenging. The moderated availability of reliable diagnostic methods, the lack of clinical suspicion out of endemic areas and the limitations of conventional techniques result in a late diagnosis that, in turn, delays the implementation of the correct antifungal therapy. In recent years, molecular methods have emerged as promising tools for the rapid diagnosis of endemic mycoses. However, the absence of a consensus among laboratories and the reduced availability of commercial tests compromises the diagnostic effectiveness of these methods. In this review, we summarize the advantages and limitations of molecular methods for the diagnosis of endemic mycoses.
PubMed: 36675880
DOI: 10.3390/jof9010059 -
Current Opinion in Allergy and Clinical... Jun 2020Molecular diagnosis has become an indispensable tool in allergy. In suspected idiopathic anaphylaxis, it is mandatory to extend the diagnostic search to its limits. The... (Review)
Review
PURPOSE OF REVIEW
Molecular diagnosis has become an indispensable tool in allergy. In suspected idiopathic anaphylaxis, it is mandatory to extend the diagnostic search to its limits. The current review evaluates how molecular diagnosis allows to identify a number of difficult to prove potential culprits.
RECENT FINDINGS
Depending on different geographical areas, it has been shown that the number of anaphylaxis labelled as idiopathic may decrease by the use of molecular diagnosis. The most relevant allergens identified are alpha-gal, omega-5-gliadin, Anisakis, lipid transfer proteins and oleosins. The role of cofactors has been shown to be relevant in a high proportion of cases. Mast cell disorders should always be ruled out.
SUMMARY
There is a need to provide further molecular diagnostic tests for use in clinical practice to identify sensitization to allergens not well represented in current commercial assays.
Topics: Allergens; Anaphylaxis; Diagnosis, Differential; Humans; Immunoglobulin E; Immunologic Tests; Molecular Diagnostic Techniques
PubMed: 31977447
DOI: 10.1097/ACI.0000000000000625 -
Expert Review of Anti-infective Therapy Dec 2021Toxoplasmosis is a globally distributed parasitic infection that can be particularly severe when opportunistic or congenital. Its diagnosis requires accurate and rapid... (Review)
Review
INTRODUCTION
Toxoplasmosis is a globally distributed parasitic infection that can be particularly severe when opportunistic or congenital. Its diagnosis requires accurate and rapid techniques that rely mainly on serology and molecular methods.
AREAS COVERED
The aim of this review was to discuss the positioning of the molecular diagnosis of toxoplasmosis according to the different clinical situations possibly resulting from infection with , and to detail recent developments in this technique. The English and French literature were searched with the following keywords: 'Toxoplasmosis', "Molecular diagnosis" and 'PCR'.
EXPERT OPINION
Molecular techniques have revolutionized the diagnosis of toxoplasmosis, and practices have considerably evolved over the past decades. However, there is still a high degree of inter-laboratory heterogeneity which impairs comparisons between results and studies. Efforts to standardize practices are underway.
Topics: Humans; Nucleic Acid Amplification Techniques; Polymerase Chain Reaction; Toxoplasma; Toxoplasmosis; Toxoplasmosis, Congenital
PubMed: 34112045
DOI: 10.1080/14787210.2021.1941867 -
International Journal of Molecular... 2012Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes.... (Review)
Review
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.
Topics: DNA Copy Number Variations; DNA Methylation; Female; Gene Deletion; Gene Dosage; Gene Duplication; Genetic Diseases, Inborn; Humans; Male; Molecular Diagnostic Techniques; Multiplex Polymerase Chain Reaction; Mutation; Neoplasms; Neuromuscular Diseases; Pregnancy; Prenatal Diagnosis
PubMed: 22489151
DOI: 10.3390/ijms13033245 -
Current Opinion in Allergy and Clinical... Dec 2016To describe recent insights into how molecular diagnosis can improve indication and selection of suitable allergens for specific immunotherapy and increase the safety of... (Review)
Review
PURPOSE OF REVIEW
To describe recent insights into how molecular diagnosis can improve indication and selection of suitable allergens for specific immunotherapy and increase the safety of this therapy.
RECENT FINDINGS
As specific allergen immunotherapy targets specific allergens, identification of the disease-eliciting allergen is a prerequisite for accurate prescription of treatment. In areas of complex sensitization to aeroallergens or in cases of hymenoptera venom allergy, the use of molecular diagnosis has demonstrated that it may lead to a change in indication and selection of allergens for immunotherapy in a large proportion of patients when compared with diagnosis based on skin prick testing and/or specific IgE determination with commercial extracts. These changes in immunotherapy prescription aided by molecular diagnosis have been demonstrated to be cost-effective in some scenarios. Certain patterns of sensitization to grass or olive pollen and bee allergens may identify patients with higher risk of adverse reaction during immunotherapy.
SUMMARY
Molecular diagnosis, when used with other tools and patients' clinical records, can help clinicians better to select the most appropriate patients and allergens for specific immunotherapy and, in some cases, predict the risk of adverse reactions. The pattern of sensitization to allergens could potentially predict the efficacy of allergen immunotherapy provided that these immunotherapy products contain a sufficient amount of these allergens. Nevertheless, multiplex assay remains a third-level approach, not to be used as screening method in current practice.
Topics: Allergens; Animals; Antigens, Plant; Cost-Benefit Analysis; Desensitization, Immunologic; Humans; Hymenoptera; Hypersensitivity; Immunoglobulin E; Pathology, Molecular; Poaceae; Pollen; Precision Medicine; Skin Tests; Venoms
PubMed: 27685663
DOI: 10.1097/ACI.0000000000000318 -
Yi Chuan = Hereditas Jan 2023Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic... (Review)
Review
Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic methods include gene chip, Sanger sequencing, targeted enrichment sequencing, and whole-exome sequencing, with diagnosis rates reaching 33.5%-56.67%. However, there are still a considerable number of patients who can not get a timely and definitive molecular diagnosis. Furthermore, considering the economic burden on patients' families and the relatively high cost of whole-exome or whole-genome sequencing, it is vital to provide stepwise strategies combining multiple detection methods according to the phenotypes of patients. In this review, we evaluate and discuss the utility of molecular diagnosis and the application of stepwise testing strategies in hereditary deafness to provide reference for the selection of diagnostic strategies.
Topics: Humans; Deafness; Whole Genome Sequencing; Exome; Phenotype; High-Throughput Nucleotide Sequencing; Pedigree; Genetic Testing; Mutation
PubMed: 36927636
DOI: 10.16288/j.yczz.22-206 -
American Journal of Clinical Pathology Jul 2017To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. (Review)
Review
OBJECTIVES
To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders.
METHODS
A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail.
RESULTS
Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities. Most disorders can be diagnosed with protein-based techniques such as electrophoresis and chromatography. Since severe syndromes can result due to inheritance of combinations of globin genetic disorders, genetic counseling is important to prevent adverse outcomes. Protein-based methods cannot always detect potentially serious thalassemia disorders; in particular, α-thalassemia may be masked in the presence of β-thalassemia. Deletional forms of β-thalassemia are also sometimes difficult to diagnose definitively with standard methods.
CONCLUSIONS
Molecular genetic testing serves an important role in identifying individuals carrying thalassemia traits that can cause adverse outcomes in offspring. Furthermore, prenatal genetic testing can identify fetuses with severe globin phenotypes.
Topics: Female; Genetic Testing; Hemoglobinopathies; Humans; Male; Molecular Diagnostic Techniques; Pregnancy; Prenatal Diagnosis; Thalassemia
PubMed: 28605432
DOI: 10.1093/ajcp/aqx047 -
Materials (Basel, Switzerland) Jul 2019Molecular diagnosis is the field that aims to develop nucleic-acid-based analytical methods for biological markers and gene expression assessments by combining... (Review)
Review
Molecular diagnosis is the field that aims to develop nucleic-acid-based analytical methods for biological markers and gene expression assessments by combining laboratory medicine and molecular genetics. As it gradually becomes a clinical reality, molecular diagnosis could benefit from improvements resulting from thorough studies that could enhance the accuracy of these methods. The application of magnetic particles in molecular diagnosis tools has led to tremendous breakthroughs in terms of specificity, sensitivity, and discrimination in bioassays. Therefore, the aim of this review is to highlight the principles involved in the implementation of magnetic particles for sample preparation and targeted analyte isolation, purification, and extraction. Furthermore, the most recent advancements in the area of cancer and infectious disease diagnosis are presented, with an emphasis on screening and early stage detection.
PubMed: 31284393
DOI: 10.3390/ma12132158 -
Experimental and Therapeutic Medicine Nov 2020COVID-19 is caused by a novel coronavirus (2019-nCoV or SARS-CoV-2) and has become a global public health emergency. Rapid and accurate molecular diagnostic technologies... (Review)
Review
COVID-19 is caused by a novel coronavirus (2019-nCoV or SARS-CoV-2) and has become a global public health emergency. Rapid and accurate molecular diagnostic technologies are crucial for the screening, isolation, treatment, prevention and control of COVID-19. Currently, nucleic acid detection-based techniques and rapid diagnostic tests that detect antigens or antibodies specific to 2019-nCoV infections are the primary diagnostic tools. China National Medical Products Administration has opened a special channel for approval of new pharmaceuticals owing to urgent clinical needs, with 18 nucleic acid detection kits, 11 protein detection kits and 1 sequencing-related equipment and supporting software having been approved until April 23, 2020. The current review summarizes the application situation, advantages, disadvantages and associated technology improvement trends of molecular diagnostics for COVID-19 in China, identifies knowledge gaps and indicates future priorities for research in this field. The most effective way to prevent and control COVID-19 is early detection, diagnosis, isolation and treatment. In the clinical application of molecular diagnosis technology, it is necessary to combine pathogenic microbiology, immunology and other associated detection technologies, advocate the combination of multiple technologies, determine how they complement each other, enhance practicability and improve the ability of rapid and accurate diagnosis and differential diagnosis of COVID-19.
PubMed: 32934678
DOI: 10.3892/etm.2020.9142