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Updated: May 5, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Evolution of a genetic diagnosis
Z Laksman1, D Dulay, M H Gollob
1Department of Cardiac Electrophysiology, Western University, London, Ontario, Canada.
Abstract:
Understanding the relationship between genotype and phenotype has become an integral part of the diagnosis and management of patients with inherited arrhythmias and cardiomyopathies. Given the existence of background noise, the majority of genetic testing results should be incorporated into clinical decision making as probabilistic, rather than deterministic, in the diagnosis and management of inherited arrhythmias. This case report captures multiple snapshots of clinical care in the evolution of a diagnosis of a single patient, highlighting the need for repeated phenotypic and genotypic assessment for both the patient and their family.
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