Page 49 - Haematologica April 2020

Clinical and molecular aspects of GT
Molecular confirmation
Genetic analysis is clinically useful for confirmation of the diagnosis, identification of at-risk carriers, reproduc- tive risk counseling for a given couple/family, and for definitive prenatal or preimplantation genetic diagnosis. Genetic counseling plays an essential role in the genetic
testing process, obtaining informed consent regarding the unique considerations, benefits, and limitations of genetic testing, and addressing the complexities of clinical appli- cation or molecular findings, unexpected results, variants of uncertain significance, and familial implications for medical risks or biological relationships. Genetic coun-
Figure 2. Diagnostic flow chart for the laboratory evaluation of a patient with suspected Glanzmann thrombasthenia (GT).
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