Genetic testing
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Genetic testing - Essentials
- Therapeutic indications
- References
- Confirming the diagnosis of a rare disease by genetic testing
- Use of multi-gene panel tests to search for an accurate diagnosis in patients with rare symptomatology
- Identifying an unknown cause of symptoms by (almost) genome-wide testing
- Interpreting the results of genetic testing
- Genetic testing of cancer tissue
- Genetic testing and genetic counselling
- Genetic testing and data protection
- The primary care physician and genetic testing
- Genetic susceptibility to breast cancer
- Genetic counselling
- Hereditary susceptibility to cancer
- Retinoblastoma
- Alzheimer’s disease
- Lactose intolerance
- Dilated cardiomyopathy
- Hereditary myopathies
- Thalassaemias
- Cystic fibrosis (CF)
- Frontotemporal lobar degeneration
- Diagnosis and treatment of childhood hypercholesterolaemia
- Rare endocrine tumours
- Ataxia
- Porphyrias
- Hypertrophic cardiomyopathy
- Interpretation of an audiogram and impaired hearing
- Intracranial aneurysm and subarachnoid haemorrhage (SAH)
- Polyneuropathies
- Screening for fetal chromosomal abnormalities
- Allergic rhinitis
- Bone marrow examination
- Rare diseases
- Implantable cardioverter-defibrillator (ICD)
- Ventricular tachycardia
- Biomedical risk assessment as an aid for smoking cessation
- Recurrent miscarriage
- Sickle cell anaemia
- Dyspepsia
- Antisocial personality disorder
- Screening and prevention of colorectal cancer
- Lynch syndrome
- Susceptibility to infections in adults
- Coeliac disease
- Food allergy and hypersensitivity in children
- Diagnosis of epilepsy: definitions and workup
- Diabetes: definition, differential diagnosis and classification
- Recurrent abdominal pain in children
- Symptoms of arrhythmia and examination of an arrhythmia patient
- Appointment with the family of a neurologically impaired and disabled child
- Acute psychosis
- Prolonged diarrhoea in adults
- Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH)
- Conduct disorders in children and adolescents
- Idiopathic pulmonary fibrosis
- Acute leukaemias in adults
- Infertility
- Treatment of dyslipidaemias
- Overweight and obesity in children
- Turner syndrome
- Diagnosis and treatment of childhood asthma
- Polycystic kidney disease
- Long QT syndrome (LQTS)
- Recurrent infections and immunodeficiencies in children
- Normal and abnormal growth in childhood