Detection rate of chromosomal microarray genetic testing in patients with cerebral palsy (P4.152)

Conclusions:The rate of patients with CP in our testing database is low (0.6% of total referrals), indicating that clinicians do not consider genetic conditions a common underlying etiology. However, the rate of pathogenic CNVs in this cohort (13%) is comparable to and in some cases higher than pathogenic detection rates reported in individuals with ID and other guideline-recommended indications for CMA. High-resolution CMA should be a recommendation for diagnostic testing in patients with CP.Study Supported by:Disclosure: Dr. Vanzo has received personal compensation for activities with Lineagen as an employee. Dr. Vanzo has stock and/or stock options with Lineagan. Dr. Vanzo has received research support from Lineagan. Dr. Harward has received personal compensation for activities with Lineagen. Dr. Harward holds stock and/or stock options in Lineagen, which sponsored research in which Dr. Harward was involoved as an investigator. Dr. Harward holds stock and/or stock options in Lineagen. Dr. Harward has received research support from Lineagen. Dr. Ho has received personal compensation for activities with Lineagen as an employee. Dr. Ho holds stock and/or stock options in Lineagen, an employee. Dr. Ho has received research support from Lineagen. Dr. Wassman has received personal compensation for activities with Lineagen as an employee. Dr. Wassman holds stock and/or stock options in Lineagen.
Source: Neurology - Category: Neurology Authors: Tags: Child Neurology II Source Type: research