Genetic testing
243 results
1 - 100
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
Uncertain role of testing for genetic mutations in adults with VTE or in at-risk family- Genetic test results that identify increased risk do not change behavior
Genetic testing for prevention of severe drug‐induced skin rash- Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation
- Day 5 versus day 3 embryo biopsy for preimplantation genetic testing for monogenic/single gene defects
- Genetic susceptibility to breast cancer
- Genetic counselling
- USPSTF 2019 recommends referring women at increased risk of BRCA-related cancer for genetic counseling (B recommendation)
- Hereditary susceptibility to cancer
- Cancer genetic risk assessment for individuals at risk of familial breast cancer
- Effects of communicating DNA‐based disease risk estimates on risk‐reducing behaviours
- Patients who undergo percutaneous coronary intervention have better outcomes using guided antiplatelet therapy
- Cell-free DNA reduces false positive results in prenatal genetic screening
- Interventions to improve psychosocial well‐being in female BRCA‐mutation carriers following risk‐reducing surgery
- Retinoblastoma
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease
- Lactose intolerance
- Dilated cardiomyopathy
- Alzheimer’s disease
- Hereditary myopathies
- Frontotemporal lobar degeneration
- Thalassaemias
- Cystic fibrosis (CF)
- Biomedical risk assessment as an aid for smoking cessation
- Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy
- Strategies for screening for familial hypercholesterolaemia in primary care and other community settings
- Pharmacogenetic panel decreases medication-related adverse events in adults
- Diagnosis and treatment of childhood hypercholesterolaemia
- Rare endocrine tumours
- Porphyrias
- Ataxia
- Preconception and antenatal screening for the fragile site on the X‐chromosome
- Pedigree identifies hereditary breast cancer syndromes
- Hypertrophic cardiomyopathy
- Interpretation of an audiogram and impaired hearing
- Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
- Intracranial aneurysm and subarachnoid haemorrhage (SAH)
- Molecular assays for the diagnosis of sepsis in neonates: a diagnostic test accuracy review
- Polyneuropathies
- Different communication strategies for disclosing results of diagnostic prenatal testing
- Screening for fetal chromosomal abnormalities
- Rare diseases
- Allergic rhinitis
- Bone marrow examination
- Next‐generation sequencing for guiding matched targeted therapies in people with relapsed or metastatic cancer
- Diagnostic test accuracy and cost‐effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma
- Ciliary neurotrophic factor (CNTF) for amyotrophic lateral sclerosis or motor neuron disease: Cochrane systematic review
- Implantable cardioverter-defibrillator (ICD)