An ICD-10 Code for CACNA1A

In June 2024, the CACNA1A Foundation submitted a proposal to obtain an ICD-10 code specific to CACNA1A-related neurodevelopment disorder (CACNA1A-NDD). The International Classification of Disease (ICD) is a system used by healthcare providers to classify and code diagnoses, symptoms, and procedures recorded in conjunction with hospital care in the U.S., and it is important for health insurance reimbursement, administration, epidemiology, and research. This system plays a crucial role in ensuring clear communication among healthcare providers, improving patient care, and facilitating data analysis. There have been revisions over the years, so when we use the term ICD-10, the list currently in use is the 10th revision.

There is no ICD-10 code to adequately capture the complex and life-long clinical manifestations of CACNA1A-NDD. An ICD-10 code will have a significant impact on the diagnosis, treatment, and research for CACNA1A-NDD. With an ICD-10 code, our community will benefit from improved recognition in the medical field, better tracking, and more targeted research opportunities. Furthermore, Implementing a specific ICD-10 code would also drastically enhance our ability to track incidence and prevalence, better understand disease burden and genotype-phenotype correlations, and improve standards of care.

The CDC invited us to present our proposal on September 11. Dr. Wendy Chung, the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, presented on our behalf. Dr. Chung, a renowned clinical and medical geneticist, also oversees the CACNA1A Natural History Study.

At that meeting, Dr. David Berglund of the CDC suggested a new subcategory - QA0.010 Neurodevelopmental disorders, related to pathogenic variants in ion channel genes - with a new code: QA0.0102 CACNA1A-related neurodevelopmental disorder. This is promising. The next steps include sending letters of support for CACNA1A-related neurodevelopmental disorders to the CDC ICD-10 Coordination and Maintenance Committee. The ICD-10 review committee strongly values the opinions of professional medical societies, hospitals, and doctors. If approved, the code will be implemented on April 1, 2025. Stay tuned.