Medical Articles

• Breast Cancer Survival After Chemotherapy: Gene Markers
• Breast and Ovarian Cancer Risk: The CanRisk Tool
• Breasts and/or Nipples, Aplasia or Hypoplasia of, 2: Understanding the Role of Genetic Testing
• Bridging the Gap: Understanding Bardet-Biedl Syndrome 9 Through Genetic Testing
• Bridging the Gap: Understanding Blepharophimosis - Intellectual Disability Syndrome Through Genetic Testing
• British HPFH: HBG Gene Mutations and Fetal Hemoglobin
• Broad Distal Phalanx of the Thumb: A Sign of GCPS
• Brugada Syndrome 6: Unveiling the Genetic Underpinnings of a Cardiac Enigma
• Brugada Syndrome 7: Bridging Genetics and Heart Health
• Brugada Syndrome 9: Unraveling the Genetic Threads of a Silent Heart Condition
• Brugada Syndrome with a Short QT Interval: Testing
• C3HEX and Smell Impairment: What Testing Can Show
• CALFAN Syndrome: What Genetic Testing Can Confirm
• CAMS: How Brain and Facial AVMs Are Diagnosed
• CBL-related Disorder: Developmental Signs and Tests
• CD99 Positive Neoplastic Cells: Testing in Cancer
• CDG Type II: N-Glycan Profiling and Counseling
• CDG-Ir and the ALG1 Gene: Testing and Care
• CES1-Related Altered Drug Metabolism: Gene Variants
• CFEOM5: KIF21A, Restricted Eye Movement and Ptosis
• CFEOM: Limited Eye Movement, Genes and Diagnosis
• CFHR5 Deficiency: Links to TTP, aHUS and Testing
• CHD8: Septal Defects, Heterotaxy and Gene Testing
• CIDEC-Related Familial Partial Lipodystrophy: Navigating Genetic Testing and Its Implications
• CMT Type 1A with Focally Folded Myelin Sheaths: Genes
• CMT2P Genes: LRSAM1, SBF1 and MT-ATP6 Variants
• CMT2V: MT-ATP6 Changes and Axon Degeneration
• CMT4B3: SBF1 Missense Mutation and Symptoms
• COG4-Congenital Disorder of Glycosylation: Gene and Tests
• COG6-CDG Symptoms and the COG6 Gene Behind Them
• COXPD-23 in Children: Early Signs and Care Planning
• COXPD29: Wide Symptom Range and Genetic Diagnosis
• COXPD8: Cardiomyopathy and Respiratory Chain Defects
• CPVT4 (RYR2 Gene): Genetic Testing and Diagnosis
• CRMCC2 (CTC1 Gene): Symptoms and Diagnosis
• CVID10: NFKB2 Mutations, Symptoms and Diagnosis
• CYP2C8-Related Altered Drug Metabolism and Testing
• Café-au-Lait Spots: When Genetic Testing Is Considered
• Calpain Defects: Genetic Testing for Muscle Disorders
• Camptothecin-Resistant DNA Topoisomerase I: Testing
• Candidiasis, Familial, 6 (CANDF6): Testing and Care
• Candidiasis, Familial, 8: Inheritance and Testing
• Capillary Malformation: Unraveling the Genetic Mysteries of Vascular Anomalies
• Carbamazepine Response: Genes That Affect Dosage
• Carbonic Anhydrase I Deficiency: Genes and Testing
• Carbonic Anhydrase I: Enzyme Role and Gene Testing
• Carboxymethyl-Dextran-A2-Gadolinium-DOTA: Testing Uses
• Carcinoma of the Esophagus: The Genetic Testing Frontier
• Carcinoma of the Head of the Pancreas: Risk Genes
• Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome: Unraveling the Genetic Threads
• Cardio-facio-cutaneous Syndrome: Unraveling Genetic Mysteries to Enhance Diagnosis and Care
• Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome c Oxidase Deficiency 2: Genetic Testing's Emerging Role
• Cardioencephalomyopathy, Fatal Infantile: Understanding Genetic Testing for Cytochrome c Oxidase Deficiency 4
• Cardiofaciocutaneous Syndrome 2: Why Testing Helps
• Cardiofaciocutaneous Syndrome 3: A RASopathy Explained
• Cardiofaciocutaneous Syndrome 4: Signs and Gene Tests
• Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis: Understanding the Role of Genetic Testing
• Cardiospondylocarpofacial Syndrome: Deciphering the Genetic Code
• Cardiovascular Phenotype: WBS, SVAS and Progeria
• Cardiovascular System Abnormalities: Gene Testing
• Cardiovascular System Morphology: Genetic Testing
• Carney Complex: Unlocking the Genetic Code for Better Diagnosis and Management
• Carotid Intimal Medial Thickness: How CIMT Is Measured
• Carrier Testing for PCS Trait in Relatives
• Cataract 15 Multiple Types: Hereditary Lens Clouding
• Cataract 19 Multiple Types: What DNA Testing Adds
• Cataract 38 and the Epha2 Gene: Research and Testing
• Cataract 39 Multiple Types: Diagnosis and Ethics
• Cataract 41: How It Is Diagnosed and Tested
• Cataract 44: GSTM1 and GSTT1 Gene Polymorphisms
• Cataract 45: Unveiling Genetic Testing's Role in Understanding This Vision-Impeding Disorder
• Catecholaminergic Polymorphic Ventricular Tachycardia 3: The Role of Genetic Testing in Diagnosis and Management
• Catecholaminergic Polymorphic Ventricular Tachycardia 5: Genetic Testing for a Hidden Heart Hazard
• Caudal Regression Sequence: Genetic Testing's Role in Diagnosis and Management
• Centronuclear Myopathy: Unraveling the Genetic Threads of a Rare Muscle Disorder
• Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 3: Unraveling the Genetic Threads
• Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 4: Navigating Genetic Testing
• Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation: Understanding the Role of Genetic Testing
• Cerebellar Cysts: Symptoms, Imaging and Genetics
• Cerebellar-Facial-Dental Syndrome: Unlocking Mysteries with Genetic Testing
• Cerebral Arteriopathy, Autosomal Dominant: Unlocking the Mysteries with Genetic Testing
• Cerebral Malaria Resistance: Pbr9, Piezo1 and Testing
• Cerebral Palsy, Spastic Quadriplegic, 3: Genetic Testing as a Guiding Light
• Cerebral Palsy: Symptoms, Diagnosis and Exome Testing
• Cerebrooculofacioskeletal Syndrome 3: Early Features
• Challenging Cholestasis: Genetic Testing and Intrahepatic Cholestasis of Pregnancy, 1
• Challenging Cholesteryl Ester Storage Disease: The Role of Genetic Testing
• Challenging Choroidal Dystrophy: Central Areolar 2 and the Role of Genetic Testing
• Channelopathies: Ion Channel Defects and NGS Testing
• Charcot-Marie-Tooth Axonal Type 2N: MT-ATP6 Testing
• Charcot-Marie-Tooth Disease Recessive Intermediate D: Decoding the Genetic Puzzle
• Charcot-Marie-Tooth Disease Type 2M: Genes and Testing
• Charcot-Marie-Tooth Disease Type 2Y: Unraveling the Genetic Threads
• Charcot-Marie-Tooth Disease Type 4K: Unraveling Genetic Mysteries
• Charcot-Marie-Tooth Disease: Unraveling the Genetic Threads of a Neurological Enigma
• Charcot-Marie-Tooth Neuropathy X: Genes in Research
• Charcot-Marie-Tooth Type 1A: PMP22 and Carrier Tests
• Charcot-Marie-Tooth Type 2Q Symptoms and Genetics
• Charting New Frontiers: Genetic Testing and Charcot-Marie-Tooth Disease Recessive Intermediate C
• Charting New Frontiers: Genetic Testing and Charcot-Marie-Tooth Disease Type 4F