Patient Friendly Diagonsis of FSHD
Optical genome mapping is becoming a much more practical and patient friendly way to diagnose FSHD because it needs far less DNA, avoids radiation, and gives a clearer picture of the part of the genome that causes the disease. When this technology is paired with next generation sequencing to look for changes in genes like SMCHD1 or DNMT3B, doctors can evaluate both major forms of FSHD as well as other neuromuscular conditions in one streamlined approach.
With the new OGM CPT code taking effect January 1, 2026, insurance billing becomes more straightforward and predictable, making it easier for clinics to order the most advanced testing without added hassle. Revvity stands out because they already specialize in this exact combination, high resolution optical mapping plus comprehensive gene sequencing, so providers can rely on a single, experienced lab that uses the newest technology, follows the newest billing standards, and delivers clear, actionable results for patients who have been searching for answers.
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