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Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.
Gomez, Keith; Laffan, Mike; Keeney, Steve; Sutherland, Megan; Curry, Nikki; Lunt, Peter.
Affiliation
  • Gomez K; Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.
  • Laffan M; Centre for Haematology, Imperial College Academic Health Sciences Centre, Imperial College London, London, UK.
  • Keeney S; Molecular Haematology Service, Manchester University NHS Foundation Trust, Manchester, UK.
  • Sutherland M; Molecular Haematology Service, Manchester University NHS Foundation Trust, Manchester, UK.
  • Curry N; Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, and NIHR BRC Blood Theme, Oxford University, Oxford, UK.
  • Lunt P; Centre for Child & Adolescent Health, University of Bristol, Bristol, UK.
Haemophilia ; 25(1): 116-126, 2019 Jan.
Article in En | MEDLINE | ID: mdl-30664826
This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had specific training in genetic testing methodology or reporting. It deals with uncertainty in classification of variant pathogenicity and the handling of incidental findings.
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Full text: 1 Database: MEDLINE Main subject: Genetic Testing / Blood Coagulation Disorders, Inherited Type of study: Guideline / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2019 Type: Article

Full text: 1 Database: MEDLINE Main subject: Genetic Testing / Blood Coagulation Disorders, Inherited Type of study: Guideline / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2019 Type: Article