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.

Discover our Diagnostics

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.

Available enzyme, biomarker, and genetics tests:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
ASMD (Niemann-Pick Type A/B)ASM (acid Sphingomyelinase)Lyso-SPM (Lyso-Sphingomyelin)SMPD1

Differential diagnosis options: 

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
Gaucher DiseaseGBA (acid β-glucosidase)Lyso-GL-1 (Lyso-Gb1)GBA
Niemann-Pick Type C1/D----NPC1
Niemann-Pick Type C2----NPC2
Lysosomal acid Lipase Deficiency (LALD)LAL (lysosomal acid Lipase)--LIPA

Quality:

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

Methodologies:

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

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].

How to Order ASMD Diagnostic Services

Ordering Diagnostic Kits

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.

All of our services are available to any interested physician or healthcare professional worldwide.

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

Five Simple Steps


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1Order Sampling Kit

Blood Drop

2Collect the Sample

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3Register the DBS Card

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4Return the Sample

Download

5Receive your Report

Diagnostic Services

View our full selection of biochemical, biomarker, and genetic tests in our exclusive WEBPORTAL.

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Pharma supported Services

ASM Deficiency (Niemann-Pick A/B) diagnostics are supported by Pharma in some areas. Please visit our WEBPORTAL to see if diagnostics are supported in your area.

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