Practical aspects of doing genetic testing in CP - Tests available and when to do which one for efficient diagnosis

ICNC2024
Symposia: Hidden Etiology of Cerebral Palsy: Shifting Paradigms In An Era of Molecular Genetics

Practical aspects of doing genetic testing in CP - Tests available and when to do which one for efficient diagnosis
Pratibha Singhi

An ongoing challenge in children presenting with cerebral palsy (CP) phenotype is identifying CP mimicking neurogenetic disorders. To help distinguish patients in these two groups, clinical findings and magnetic resonance imaging (MRI) of the brain are often first step for "unmasking" many of these disorders with genetic etiologies. However, in daily practice, many of these features are nonspecific or outside the defined clinical phenotype impairing the ability to establish a diagnosis without genetic testing.
Recent advances in genetic testing enabled wider use of next generation sequencing (NGS) techniques and chromosomal microarray in clinical practice. Also, NGS has the potential of discovering atypical presentations of established disorders, or enabling diagnosis when a patient has not yet developed classical findings. The diagnostic power of genomic evaluation in children with CP is of growing interest as neurogenetic masqueraders can be identified using next-generation sequencing technology. This talk will focus on the practical aspects of genetic testing in CP, the tests available and how to choose from them.

Other Lectures in this Symposium
In-depth analysis of genetic testing in CP with illustrative case studies and a glimpse at the future anticipated developments
Prompt use of clinical phenomenology and radiological investigations for evaluation for an underlying etiology in cerebral palsy
Genetic insights into the classification and treatment modalities of the cerebral palsies