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Niemann-Pick Disease (Type A & B)

Test Information

Title
Niemann-Pick Disease (Type A & B)
Category
Metabolic
Test Name (CMS Title)
Niemann-Pick Disease
Gene/Platform/Region List
SMPD1
Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Targeted Sanger Sequencing

Last Updated: December 09, 2025