Diagnostic Services for
ASM Deficiency

A proven and certified diagnostic service delivering reliable results for ASMD diagnosis (Niemann-Pick Type A/B) using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Premium diagnostic services for ASM Deficiency (Niemann-Pick Type A/B).
From enzyme and biomarker to genetic confirmation.

Path to ASMD Diagnosis

Our service is ideal for identification of ASM Deficiency (Niemann-Pick Type A/B) in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of ASMD.

Testing is fast and safe using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough sample for biochemical testing and in most cases genetic confirmation testing as well.

Quality:

Fully validated and accredited according to the highest quality standards for Medical Laboratories (ISO 15189).

 

Methodologies used:

  • Enzyme and biomarker assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.
Path to Gaucher Diagnosis

Available enzymatic and biomarker tests:

Enzyme:
ASM (acid Sphingomyelinase)

Biomarker:
Lyso-SPM (Lyso-Sphingomyelin)

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
SMPD1 Niemann-Pick, Type A 607608 AR
Niemann-Pick, Type B AR

Differential diagnosis options: 

Gaucher Disease:
Enzyme:
GBA (acid β-glucosidase)

Biomarker:
Lyso-GL-1 (Lyso-Gb1)

 

Lysosomal Acid Lipase Deficiency:
Enzyme:
LAL (lysosomal acid Lipase)

Gene Associated disease(s) OMIM # Inheritance
NPC1 Niemann-Pick,Type C1 607623 AR
Niemann-Pick,Type D AR
NPC2 Niemann-Pick,Type C2 601015 AR
GBA Gaucher disease, Type I 606463 AR
Gaucher disease, Type II AR
Gaucher disease, Type III AR
Gaucher disease, Type IIIC AR
LIPA Lysosomal acid Lipase deficiency 613497 AR

About ASMD

What is ASM deficiency?

Acid Sphingomyelinase deficiency (ASM deficiency, ASMD), also known as Niemann-Pick Type A/B disease, is part of a group of lipid storage disorders affecting lipid metabolism in lysosomes. It is caused by a genetic mutation and results in a toxic accumulation of the metabolic substrate sphingomyelin.

Which mutation causes an enzyme deficiency?

ASMD is caused by different mutations in the SMPD1 gene. This gene is responsible for coding the ASM enzyme which metabolizes sphingomyelin. Accumulation of sphingomyelin, occurring primarily in the central nervous system, results in the clinical presentation of the disease.

Are there diseases similar symptoms to ASM deficiency?

Clinical presentation of ASM deficiency is similar to other congentital sphingolipidoses which can result in underdiagnosis. For example, recent evidence has shown that 1 in 5 patients suspected of Gaucher disease is actually affected with ASMD[1].

Clinical Symptoms:

Common symptoms include hepatosplenomegaly, abnormal lipid profiles, interstitial lung disease and hematologic abnormalities.

More questions about ASM deficiency
and supporting diagnostics?

How to Order ASMD Diagnostic Services

ARCHIMEDlife Sampling Kit

Our Diagnostic Service for ASM deficiency includes enzyme testing for acid Sphingomyelinase, biomarker testing for Lyso-Sphingomyelin (Lyso-SPM) as well as any necessary genetic molecular analysis.

These services are available to any interested physician or healthcare professional worldwide.

As part of our diagnostic service, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services though our easy and secure WEBPORTAL and receive your electronic medical report in five simple steps.

Five Simple Steps


1Order Sampling Kit

2Collect the Sample

3Register the DBS card

4Return the Sample

5Receive your Report

More questions about ASM deficiency
and supporting diagnostics?

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