81188 Cstb gene detc abnor allele
Pathology & Lab
Also known as: CSTB repeat analysis, Progressive Myoclonic Epilepsy 1 testing
Molecular analysis of the CSTB gene to detect abnormal dodecamer repeat expansions (CCCCGCCCCGC) associated with Progressive Myoclonic Epilepsy type 1.
Clinical Context
Used to diagnose Progressive Myoclonic Epilepsy type 1 (Unverricht-Lundborg disease) in patients with progressive myoclonus and seizures.
RVU Breakdown
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Specialties
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