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 testing for prevention of severe drug‐induced skin rash
Uncertain role of testing for genetic mutations in adults with VTE or in at-risk family- 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
- USPSTF 2019 recommends referring women at increased risk of BRCA-related cancer for genetic counseling (B recommendation)
- Genetic counselling
- Hereditary susceptibility to cancer
- Patients who undergo percutaneous coronary intervention have better outcomes using guided antiplatelet therapy
- Genetic test results that identify increased risk do not change behavior
- Cancer genetic risk assessment for individuals at risk of familial breast cancer
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease
- Interventions to improve psychosocial well‐being in female BRCA‐mutation carriers following risk‐reducing surgery
- Alzheimer’s disease
- Dilated cardiomyopathy
- Retinoblastoma
- Diagnosis and treatment of childhood hypercholesterolaemia
- Lactose intolerance
- Pedigree identifies hereditary breast cancer syndromes
- Thalassaemias
- Cell-free DNA reduces false positive results in prenatal genetic screening
- Pharmacogenetic panel decreases medication-related adverse events in adults
- Biomedical risk assessment as an aid for smoking cessation
- Strategies for screening for familial hypercholesterolaemia in primary care and other community settings
- Next‐generation sequencing for guiding matched targeted therapies in people with relapsed or metastatic cancer
- Bone marrow examination
- Frontotemporal lobar degeneration
- Implantable cardioverter-defibrillator (ICD)
- Biomedical risk assessment as an aid for smoking cessation
- Porphyrias
- Polyneuropathies
- Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis
- Delivery of bad news via phone = in-person delivery
- Preconception and antenatal screening for the fragile site on the X‐chromosome
- Hypertrophic cardiomyopathy
- Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
- Cell-free DNA highly accurate for prenatal diagnosis of trisomies 21 and 18
- Instruments for chorionic villus sampling for prenatal diagnosis
- Screening and prevention of colorectal cancer
- Topiramate reduces heavy drinking
- Diabetes: definition, differential diagnosis and classification
- Palliative drug treatments for breathlessness in cystic fibrosis
- General anesthesia before age 36 months does not increase risk of adverse neurocognitive outcomes
- Dyspepsia
- Suppressive treatment results in zero HIV transmission in serodifferent couples reporting condomless sex
- Inhaled bronchodilators for cystic fibrosis: Cochrane systematic review
- USPSTF: No recommendation for lipid disorder screening in patients 20 years or younger (I recommendation)
- Valaciclovir decreases the frequency of vertical transmission among pregnant women with primary cytomegalovirus infection
- Food allergy and hypersensitivity in children
- GenoType® MTBDRsl assay for resistance to second‐line anti‐tuberculosis drugs
- Disclosing to parents newborn carrier status identified by routine blood spot screening
- Diagnosis of epilepsy: definitions and workup
- Urine tests for Down's syndrome screening
- Targeted therapy for advanced anaplastic lymphoma kinase (ALK)‐rearranged non‐small cell lung cancer
- Dietary exclusions for established atopic eczema
- Insulin treatment of gestational diabetes is better than oral treatment to reduce the incidence of large-for-gestational-age newborns
- Recombinant growth hormone therapy for cystic fibrosis in children and young adults