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.
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.
Key words
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