At some point in life, everyone will seek medical attention for themselves or a loved one. Often, the cause for concern isn't immediately clear, marking the beginning of what could be a rare disease journey. Each year on the final day of February, Rare Disease Day raises awareness for these individuals and their experiences. As genetic counselors,…
Exome sequencing, which assesses the protein coding sections of all ~20,000 genes, is an effective genetic test for a variety of clinical indications, but especially for children with neurodevelopmental disorders. Because the testing range is so broad, it is important to have as much supportive evidence as possible to efficiently identify clinically…