Genetic Diagnosis

Genetic diagnosis is a laboratory testing method used to identify genes and gene mutations which may be responsible for genetic diseases. It is an important tool in diagnosing various inherited diseases and syndromes and enables medical professionals to take preventative measures to address potential health risks associated with the disease. It is also used to determine the risk of some future medical issues a person may face, as well as to identify inherited traits such as eye color or inherited diseases such as cystic fibrosis. Genetic diagnosis can also aid in preventing the transmission of genetic diseases from one generation to the next by identifying carriers of the mutated genes. Additionally, it is also an important tool for evaluating genetic diversity within a population.

← Journal of Hereditary Diseases

Related Articles

57 article(s) found

Prevalence and Factors Associated with Disclosure of HIV Diagnosis to Infected Children Receiving Antiretroviral Treatment in Public Health Care Facilities in Gauteng, South Africa

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Single Nucleotide Polymorphisms associated with alimentary fatty liver disease are not genetic risk factors for treatment-associated hepatic steatosis in HIV patients on HAART

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Genetic Polymorphisms in Patients with Epilepsy: A Mini Review.

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Delayed Diagnosis of Glioblastoma due to Recent Ruptured Aneurysm. A Case Report.

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Molecular Cytogenetic Investigations in a Novel Chromosomal Abnormality of t(10;15)(q22;q22) in a Pediatric Precursor-B-Acute Lymphoblastic Leukemia Patient

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A Review of the Histologic, Genetic and Molecular Characteristics of Meningioma Pathogenesis and Progression

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Current MR-Enterography in the Diagnosis of Crohn’s Disease, an Update.

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Epigenetics and Nutrition

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Epidemiology and the Histopathological Pattern of Diagnosis of Thyroid Diseases in a University Hospital in Riyadh, Saudi Arabia

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MicroRNAs: As A Novel Potential Tool for Diagnosis, Prognosis, and Therapeutic Agents in Hypertension.

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A Multidisciplinary Approach in The Diagnosis of Allergic and Non-Allergic Respiratory Diseases: Nasal Cytology and Feno.

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Role of Echo-Planar Diffusion-Weighted Magnetic Resonance Imaging in Diagnosis of Cholesteatoma

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A review of ultrasound for the diagnosis of acute appendicitis in adults

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Evaluation of Crest Guideline Validity for Diagnosis of Non-Facial Cellulites

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Adenosquamous Cell Carcinoma of the Stomach 18F-FDG PET/CT Diagnosis and Review of Literature

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Primary Malignant Melanoma Of The Parotid Gland Combined 18F-FDGPET/CT And Immunochemical Diagnosis with Literature Review

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Cervical Medial Branch Blocks For The Diagnosis Of Somatosensory Tinnitus. A Pilot Study.

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Dental Sinus Infections- Why are we Still Missing the Well Documented Diagnosis?

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Rare Lipomatous Neoplasm of The Thigh in A 13 Year Old Male with A Discussion of Imaging Features and Differential Diagnosis of A Fatty Extremity Mass

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Rice Epigenetic Pathways: Great Genetic Variation and Implication for Rapid Rice Breeding

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Scientific and Technological Interventions for Attaining Precision in Plant Genetics and Breeding

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Human Proteome Project and Current Bioinformatics Status in Disease Diagnosis and Treatment

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Endocrine Disrupting Chemicals: Epigenetic Relevance and Mechanisms

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Genetic Diversity of Large Japanese Field Mouse Apodemus speciosus Populations and Identification of their Food Plant Resources using DNA Barcoding in an Industrial Green Space

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Genetic Diversity, Phylogenetic Tree and Principal Component Analysis Based on Morpho-Metric Traits of Assam Chilli

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Epigenetic Biomarkers in Head and Neck Cancer 

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Effect of Coinfection by Fasciola hepatica and Mycobacterium bovis on Bovine Tuberculosis Immunodiagnosis in an Enzootic Area Hidalgo State, Mexico.

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Interest of Confirmation Tests in the Diagnosis of Viral Hepatitis C to Blood Donors in Abidjan-Côte d'Ivoire

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Long Non-Coding RNAs Emerging as Potential Epigenetic Biomarkers for Tobacco and/or Alcohol-Induced Head and Neck Cancer

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Toward Better Medical Diagnosis: Tissue Optical Clearing 

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Research Status and Application Prospect of Epigenetic Regulation of BDNF Gene Expression in Chronic Pain 

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Genetic-Mathematical Modelling of Mutational Processes in a Population

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Allele Based Inference on Evolution and Extinction; A Genetic Drift Approach

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Role of Tie2, CD14, Angiopoietin as Angiogenetic Markers in Hepatocellular Carcinoma Complicating Hepatitis C Virus Infection

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Natural Selection in a Population is a Problem of Nonlinear Genetics

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The Genetic Multiplicity- Multiple Endocrine Neoplasia type I

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Evaluations of phylogenetic proximity in a group of 67 dogs with osteosarcoma: a pilot study

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RETRACTED: Recent New Results and Achievements of California South University (CSU) BioSpectroscopy Core Research Laboratory for COVID-19 or 2019-nCoV Treatment: Diagnosis and Treatment Methodologies of “Coronavirus”

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The Intersection of Cultural Characteristics and Genetics on the Prevalence of Delayed Sleep Phase Syndrome in Brazilian and Japanese Adults

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Laboratory Tests Used in the Diagnosis of Immune Thrombocytopenia and General Treatment Approaches

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Genetic Algorithm Coupled with Neural Networks to Guesstimate the Subsurface Features of the Earth

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Genetic-Mathematical Modelling of the Populations Interaction

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The Additional Diagnostic Value of the Three-dimensional 3D ultrasound and Doppler angiography imaging  in the prenatal diagnosis of left isomerism

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Stem Cell Differentiation Stage Factors (SCDSFs) Taken from Zebrafish Embryo during Organogenesis and their Role as Epigenetics Regulators able to Reverse Neurosensory Hearing Loss

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Challenger and Propose Novel Methods and Techniques for Prevention, Prognosis, Diagnosis, Imaging, Screening, Treatment and Management of Lung Cancer

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Tay-Sachs Disease: From Molecular Characterization to Ethical Quandaries and the Possibility of Genetic Medicine

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CERN Large Hadron Collider (LHC) Radiation Source for Magnetic Resonance Biospectroscopy in Metabolic and Molecular Imaging and Diagnosis of Cancer

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Detection of Smuggled Genetically Modified Crops and Assessment of its Environmental Impact in the Ethio -Sudan Trans Boundary Area, North West Ethiopia

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Interventional Programs for Genetically Disabled People Through Evidence-Based Advocacy

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Molecular Diagnosis in Clinical Management and Diagnosis of Thyroid Cancer

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Rbm45 Phylogenetics, Protein Domain Conservation, and Gene Architecture in Clade Metazoa

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Challenges in Diagnosis of Neurosarcoidosis

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Unveiling Gender Disparities in ADHD: A Literature Review on Factors and Impacts of Late Diagnosis in Females (2010-2023)

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Newborns' MicroRNA Expression as Potential Biomarkers for Disease Diagnosis

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Understanding Inherited Bleeding Disorders: Genetic Mutations in Blood Coagulation Factors and Regulatory Proteins

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Plasma TREM2 Levels, Alcohol Consumption, and Liver Enzymes in Patients with Alcohol use Disorder: A Sex-Dependent Relationship Involving MS4A6A Genetic Polymorphism

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Retraction for Alireza Heidari et al., Recent New Results and Achievements of California South University (CSU) BioSpectroscopy Core Research Laboratory for COVID-19 or 2019-nCoV Treatment: Diagnosis and Treatment Methodologies of “Coronavirus”

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