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:
| Disease | Enzyme Tests | Biomarker Tests | Genetic Tests |
|---|---|---|---|
| ASMD (Niemann-Pick Type A/B) | ASM (acid Sphingomyelinase) | Lyso-SPM (Lyso-Sphingomyelin) | SMPD1 |
Differential diagnosis options:
| Disease | Enzyme Tests | Biomarker Tests | Genetic Tests |
|---|---|---|---|
| Gaucher Disease | GBA (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
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 through 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