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Haemophilia ; 25(1): 116-126, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30664826

ABSTRACT

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.


Subject(s)
Blood Coagulation Disorders, Inherited/diagnosis , Genetic Testing , Blood Coagulation Disorders, Inherited/genetics , Breath Tests , Chromosome Aberrations , Genotype , Humans , Mosaicism , Pedigree , Phenotype , Uncertainty , United Kingdom
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