Genetic Test Details

Niemann-Pick Disease (Type A & B)

Test Information

Title
Niemann-Pick Disease (Type A & B)
Category
Metabolic
Sub Category
Niemann-Pick Disease
Gene/Platform/Region List

SMPD1

Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Diagnosis, Prenatal
Test Methodology
Sequencing
Methodology Notes

Targeted Sanger Sequencing

Last Updated: November 26, 2025