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81330 Smpd1 gene common variants

Pathology & Lab

Also known as: SMPD1 gene testing, Niemann-Pick disease screening

Sphingomyelinase (SMPD1) gene analysis for common variants associated with acid sphingomyelinase deficiency and Niemann-Pick disease.

Clinical Context

Identifies SMPD1 variants causing Niemann-Pick disease types A and B affecting lysosomal lipid metabolism.

RVU Breakdown

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Specialties

PathologyGeneticsPediatrics

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CPT® is a registered trademark of the American Medical Association. Data sourced from CMS Physician Fee Schedule RVU26A. Descriptions, synonyms, and clinical context are original content by RVU Edge.