CACNA1A-related neurodevelopmental disorder

This code identifies a neurodevelopmental disorder stemming from pathogenic variants in the CACNA1A gene. This genetic condition typically manifests with a spectrum of neurological symptoms, including developmental delay, intellectual disability, ataxia, epilepsy, and sometimes migraine. The severity and specific presentation can vary widely among affected individuals.

Assign this code when documentation explicitly states a diagnosis of CACNA1A-related neurodevelopmental disorder, confirmed by genetic testing. This code is appropriate for patients presenting with the characteristic neurological features and a confirmed genetic etiology. Supporting documentation should include genetic test results and a physician's diagnostic statement.

• Ensure genetic testing results confirm a pathogenic CACNA1A variant.
• Do not use this code for isolated ataxia, epilepsy, or migraine without documented CACNA1A involvement.
• Sequence this code as the primary diagnosis when it is the main reason for the encounter, followed by codes for specific manifestations (e.g., G40.- for epilepsy, R62.0 for developmental delay).