Metabolic Disease

Wilson disease has been called "the great masquerader" for a reason.

Patients get psychiatric diagnoses. Liver diagnoses. Movement-disorder diagnoses. Sometimes all three, in that order, over several years — before anyone checks the gene. That's not a rare failure mode in inherited metabolic disease. It's close to the default one. Inborn errors of metabolism are individually uncommon but collectively far from it, and their multisystem, nonspecific presentations mean the diagnosis often arrives last, after every other specialty has taken a turn.

Phenotype-driven, not symptom-siloed

ScreenMyGene's metabolic disease logic works from the diagnosis and phenotype documented in the chart, not from which specialty happened to see the patient first. A presentation that looks purely hepatic to a gastroenterologist and purely psychiatric to a psychiatrist can still point to the same underlying condition, and the panel logic is built to catch that overlap rather than stay inside one specialty's lane.

How it works for metabolic disease specifically

1. Phenotype and diagnosis extraction — Documented symptoms, lab findings, and diagnoses across systems are pulled from the full chart, not a single specialty's notes.

2. Cross-system phenotype matching — Findings are evaluated together against known inborn error of metabolism presentations, including conditions like Wilson disease, rather than assessed in isolation by symptom category.

3. Diagnosis-driven panel logic — The specific inherited metabolic or storage disorder panel is matched to the documented phenotype and diagnosis pattern.

4. ICD-10 and coverage check — The recommendation is anchored to a documented, matching diagnosis code and checked against Medicare LCD/NCD coverage policy.

What this catches that specialty-siloed review often misses

• Multisystem presentations where each individual finding looks explainable on its own, but the combination points to a specific inborn error of metabolism
• Patients already carrying an established diagnosis in one specialty where a metabolic cause was never reconsidered
• Cases where a diagnosis code technically fits a broad metabolic category, but doesn't yet map to a specific, order-ready panel

Who this is for

• Medical directors and genetic counselors managing patients with diagnostic histories spanning multiple specialties
• Molecular labs triaging metabolic disease orders where documentation is scattered across prior specialty visits
• Ordering clinicians who suspect a metabolic cause but need the specific panel matched to the phenotype, not just a category