Content appropriate for this section includes eQTL (and other QTL) mapping of regulatory variants, functional characterization of disease-associated variants, prediction of variant effects on molecular traits, and assays for measuring regulatory or other molecular effects of genetic variant. (ashg.org)
Genetic19
Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. (qxmd.com)
Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. (lu.se)
Molecular genetic abnormalities preceding, or occurring during, BC include overexpression of the BCR/ABL transcript, upregulation of the EVI1 gene, increased telomerase activity, and mutations of the tumor suppressor genes RB1, TP53, and CDKN2A. (lu.se)
However, the clinical impact of additional cytogenetic and molecular genetic aberrations is most likely modified by the treatment modalities used. (lu.se)
Cutting-edge technologies or novel uses of traditional methods to facilitate the detection (molecular or cytogenetic) and diagnosis of genetic disorders. (ashg.org)
Effects that genetic variants have on cellular or molecular traits. (ashg.org)
Furthermore, the relationship between the pattern of KIT and PDGFRA oncogenic mutations and that of cytogenetic changes has not been systematically studied, precluding a full understanding of the genetic pathways involved in GIST development. (biomedcentral.com)
Cytogenetic and molecular genetic findings were integrated and correlated with clinico-pathological parameters, including imatinib/sunitinib therapy response. (biomedcentral.com)
Laboratories that perform molecular genetic testing are subject to the general CLIA quality systems requirements for nonwaived testing and the CLIA personnel requirements for tests of high complexity. (cdc.gov)
Although many laboratories that perform molecular genetic testing comply with applicable regulatory requirements and adhere to professional practice guidelines,specific guidelines for quality assurance are needed to ensure the quality of test performance. (cdc.gov)
To enhance the oversight of genetic testing under the CLIA framework,CDC and the Centers for Medicare & Medicaid Services (CMS) have taken practical steps to address the quality management concerns in molecular genetic testing,including working with the Clinical Laboratory Improvement Advisory Committee (CLIAC). (cdc.gov)
This report provides CLIAC recommendations for good laboratory practices for ensuring the quality of molecular genetic testing for heritable diseases and conditions. (cdc.gov)
The recommended practices address the total testing process (including the preanalytic,analytic,and postanalytic phases),laboratory responsibilities regarding authorized persons,confidentiality of patient information,personnel competency,considerations before introducing molecular genetic testing or offering new molecular genetic tests,and the quality management system approach to molecular genetic testing. (cdc.gov)
These recommendations are intended for laboratories that perform molecular genetic testing for heritable diseases and conditions and for medical and public health professionals who evaluate laboratory practices and policies to improve the quality of molecular genetic laboratory services. (cdc.gov)
This report also is intended to be a resource for users of laboratory services to aid in their use of molecular genetic tests and test results in health assessment and care. (cdc.gov)
Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)
Since that time, advances in scientific research and technology have led to a substantial increase both in the health conditions for which genetic defects or variations can be detected with molecular methods and in the spectrum of the molecular testing methods ( 1 ). (cdc.gov)
As the number of molecular genetic tests performed for patient testing has steadily increased, so has the number of laboratories that perform molecular genetic testing for heritable diseases and conditions ( 2,3 ). (cdc.gov)
With increasing use in clinical and public health practices, molecular genetic testing affects persons and their families in every life stage by contributing to disease diagnosis, prediction of future disease risk, optimization of treatment, prevention of adverse drug response, and health assessment and management. (cdc.gov)
Cytogenetics8
Molecular cytogenetics combines two disciplines, molecular biology and cytogenetics, and involves the analysis of chromosome structure to help distinguish normal and cancer-causing cells. (wikipedia.org)
Today, the study of molecular cytogenetics can be useful in diagnosing and treating various malignancies such as hematological malignancies, brain tumors, and other precursors of cancer. (wikipedia.org)
Here the role of molecular cytogenetics in the context of yet available all other cytogenomic approaches is discussed. (frontiersin.org)
A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in situ hybridization (FISH). (frontiersin.org)
Overall, molecular cytogenetics is far from being outdated and actively involved in up-to-date diagnostics and research. (frontiersin.org)
This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)
Molecular cytogenetics" developed from cytogenetics field, later. (frontiersin.org)
She is board certified in both clinical cytogenetics and clinical molecular genetics by the American Board of Medical Genetics and Genomics (ABMGG). (unmc.edu)
Diagnosis3
In order to characterise this syndrome better, facilitate the diagnosis, and provide targeted health care for affected individuals, we have studied 33 patients (32 new observations) with a pure 22q13 partial monosomy, using molecular and cytogenetic methods. (bmj.com)
Evaluation of cytogenetic abnormalities is useful in the diagnosis of MDS and crucial in determining the prognosis [ 8 ]. (biomedcentral.com)
According to international standards, cytogenetic and molecular examination determined that this form of leukemia was "poor risk" at the time of diagnosis. (cdc.gov)
Clinical2
However, clinical symptoms, cytogenetic abnormalities, and the disease's pathophysiology are dissimilar in different populations and vary greatly in different geographic areas. (biomedcentral.com)
Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes. (bvsalud.org)
Chromosomal3
Here, we provide the first cytogenetic information on the species based on both conventional karyotyping and chromosomal mapping of 45S and 5S ribosomal genes through fluorescence in situ hybridization (FISH). (scielo.br)
Furthermore, based on a phylogeny with 88 triatomine taxa (developed with different molecular markers), a reconstruction of ancestral karyotypes and of anagenetic and cladogenetic events related to karyotypic alterations was performed through the ChromoSSE chromosomal evolution model. (bvsalud.org)
Diagnostics2
HealthCare is biotechnology company that offers a wide range tools in Molecular Diagnostics for medical research and medical diagnostics con. (healthcare-biotech.com)
A novel assay may be effective at detecting a unique molecular marker in patients with acute myeloid leukemia (AML), according to a recent study published by Young et al in The Journal of Molecular Diagnostics. (ascopost.com)
Abnormalities2
Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different populations and geographic areas. (biomedcentral.com)
A normal karyotype was observed in 59 patients (57.3%), while 44 patients (42.7%) had cytogenetic abnormalities. (biomedcentral.com)
Diploid numbers2
Among the analyzed specimens, a large degree of cytogenetic variation related to diploid numbers and karyotype structure was observed, with karyotypes showing 2n=42, 44 and 46 chromosomes. (scielo.br)
A comparative analysis of the available cytogenetic data for the family Osmeridae reveals diploid numbers higher than 48 and high fundamental numbers. (scielo.br)
Species1
The goal of this work was to use cytogenetic and molecular methods to determine the species delimitations and understand the karyoevolution of S . marmoratus using samples collected from distinct Brazilian localities. (scielo.br)
Phylogenetic2
Finally, the integration of both molecular cytogenetic and phylogenetic approaches allowed the determination of specific chromosomes possibly involved in rearrangements and a better understanding about the evolutionary processes involved in the differentiation of Synbranchus genus. (scielo.br)
This cytogenetic diversity offers the opportunity to perform cytotaxonomic and phylogenetic studies, as well as structural, evolutionary, and functional analyses of the genome. (karger.com)
Pathology1
Identification of novel loci (including modifiers), advances in our understanding of the molecular pathology or phenotypic spectrum, and/or current concepts in treating Mendelian diseases. (ashg.org)
Morphologic1
Its main goal is to convert morphologic and cytogenetic remission into durable molecular remission. (medscape.com)
Analysis3
We performed a molecular cytogenetic investigation of the scleractinian coral Acropora solitaryensis, which is dominant in the temperate region of Japan (30-35°N). Molecular cytogenetic analysis, using fluorescence in situ hybridization (FISH), was carried out for karyotyping and gene mapping. (bioone.org)
PCR-based markers and cytogenetic analysis with genomic in situ hybridisation were applied to identify alien chromatin in four genetically diverse populations of wheat ( Triticum aestivum ) lines incorporating chromosome segments from Thinopyrum intermedium and Secale cereale (rye). (nature.com)
Speirs, V 2000, ' Molecular cytogenetic analysis of breast cancer cell lines ', Breast Cancer Research , vol. 2, no. 1, 66648. (elsevierpure.com)
Chromosome1
Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
Chromosomes1
Several cytogenetic studies have already been performed in Triatominae, such that different karyotypes could be characterized (ranging from 2n = 21 to 25 chromosomes), being the changes in the number of chromosomes related mainly to fusion and fission events. (bvsalud.org)
Prognostic1
The main aim of the study was to determine whether achievement of complete cytogenetic response or major molecular response had similar prognostic implications irrespective of the frontline TKI modality used. (elsevierpure.com)
Spectrum1
Herein, we determined the cytogenetic spectrum and clinico-hematological features of Iranian MDS patients for the first time. (biomedcentral.com)
Variation1
Systematics of Mepraia (Hemiptera-Reduviidae): cytogenetic and molecular variation. (karger.com)
Chronic lymphocy1
Andreieva S.V., Korets K.V., Skorokhod I.M., Ruzhinska O.E. Cytogenetic and molecular cytogenetic investigations in relapse of B-cells chronic lymphocytic leukemia, Tsitol Genet. (cytgen.com)
Genome1
Additionally, once a transgenic event is obtained, molecular studies required for a commercial release by regulatory authorities, which include transgene insertion site, number of transgenes and gene expression levels, are all hindered by the genomic complexity and the lack of a complete sequenced reference genome for this crop. (frontiersin.org)
Conventional1
The cytogenetic evaluation was performed using the conventional G banding method on the BM. (biomedcentral.com)
Studies4
Regardless of the causative rearrangement, very few cases of "pure" 22q13 monosomy have been investigated up to now by detailed molecular studies. (bmj.com)
Eleven tumors from ten patients with Hodgkin's disease (HD) were characterized by histologic, cytogenetic, immunophenotypic, and genotypic studies. (elsevierpure.com)
Therefore, we performed morphological, cytological and molecular studies and characterized the feeding and defecation pattern of hybrids from crosses between T. sordida and T. rosai. (bvsalud.org)
According to molecular studies, the mitochondrial marker Cytochrome B (CytB) related the hybrids with T. sordida and the nuclear marker Internal Transcribed Spacer 1 (ITS-1) related the hybrids with T. rosai. (bvsalud.org)
Data1
Our data betokened that among our MDS patients, Trisomy 8 is the predominant cytogenetic abnormality, and MDS-MLD and MDS-SLD are the most common of subtypes. (biomedcentral.com)
Aspects1
Molecular aspects of monooxygenases and bioactivation of toxic compounds. (cdc.gov)
Patients1
There are many reports from western countries in terms of cytogenetic profiles of MDS patients. (biomedcentral.com)
Tests1
Cytogenetic tests, immunophenotyping, and molecular testing that tell your provider what type of AML you have. (oncolink.org)
Treatment1
The cytogenetic evolution patterns vary significantly in relation to treatment given during CP. (lu.se)
Effects1
Molecular, cytogenetic, and hematologic effects of ethylene oxide on female hospital workers. (cdc.gov)
Disease1
The molecular basis for such ethnical difference in disease pathogenesis remains unknown. (uzh.ch)
Therapy1
We analysed long-term molecular and cytogenetic response and survival outcomes for four TKI modalities used as frontline therapy for CML-CP. (elsevierpure.com)