Genetic Test Details | Ontario Health

Niemann-Pick Disease (Type A & B)

Test Information

Title: Niemann-Pick Disease (Type A & B)
Lab: The Hospital for Sick Children
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

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