Niemann-Pick disease

Synonyms: -

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Niemann–Pick disease is a rare autosomal recessively inherited lysosomal storage disorder. Niemann–Pick disease types A and B are caused by a defect in the SMPD1 gene, which encodes acid sphingomyelinase (ASM). This genetic defect leads to enzyme deficiency, preventing the breakdown of sphingomyelin and resulting in its accumulation in cells of various organs such as the spleen and liver.

Niemann-Pick disease

3 Gene(s)*

NPC1

NPC2

SMPD1

Symptoms

Causes

Inheritance

Last Update : 24.09.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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