Diagnostic Services for
Gaucher Disease

A proven and certified diagnostic service delivering reliable results for Gaucher Disease diagnosis using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Premium diagnostic services for Gaucher Disease.
From enzyme and biomarker to genetic confirmation.

Path to Gaucher Diagnosis

Our service is ideal for identification of Gaucher Disease in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of Gaucher Disease.

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.


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:

GBA (acid β-glucosidase)

Lyso-GL-1 (Lyso-Gb1)

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
GBA Gaucher disease, Type I 606463 AR
Gaucher disease, Type II AR
Gaucher disease, Type III AR
Gaucher disease, Type IIIC AR

Differential diagnosis options: 

ASMD (Niemann-Pick Type A/B)
ASM (acid Sphingomyelinase)

Lyso-SPM (Lyso-Sphingomyelin)

Lysosomal Acid Lipase Deficiency
LAL (lysosomal acid Lipase)

Gene Associated disease(s) OMIM # Inheritance
SMPD1 Niemann-Pick, Type A 607608 AR
Niemann-Pick, Type B AR
NPC1 Niemann-Pick,Type C1 607623 AR
Niemann-Pick,Type D AR
NPC2 Niemann-Pick,Type C2 601015 AR
LIPA Lysosomal acid Lipase deficiency 613497 AR

About Gaucher Disease

What is Gaucher Disease?

Gaucher 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 glucocerebroside.
Gaucher disease has 3 different types:

  1. GD type I (non-neuropathic) is the most common and least severe form of the disease. Symptoms may begin early in life or in adulthood. The range and severity of symptoms can vary dramatically between patients.
  2. GD type II (acute infantile neuropathic) typically begins within 6 months of birth, and affected children usually die by age two.
  3. GD type III (chronic neuropathic) can begin at any time in childhood or even in adulthood and is characterized by slowly progressive, but milder neurologic symptoms compared to the type II version. Patients often live in early adolescence and adulthood.


Which mutation causes an enzyme deficiency?

Gaucher (GD) is caused by a mutation in the GBA gene which encodes the enzyme glucocerebrosidase. When this enzyme is deficient or improperly functioning, glucocerebroside accumulates in the body, primarily in white blood cells and especially macrophages. Glucocerebroside also builds up in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Are there diseases similar symptoms to Gaucher Disease?

Clinical presentation of Gaucher Disease is similar to other congentital sphingolipidoses which can result in underdiagnosis.

Clinical Symptoms:

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

More questions about Gaucher Disease
and supporting diagnostics?

How to Order Gaucher Diagnostic Services

ARCHIMEDlife Sampling Kit

Our Diagnostic Service for Gaucher disease includes enzyme testing for acid β-glucosidase (GBA), biomarker testing for Glucosylsphingosine (Lyso-GL-1 / Lyso-Gb1) 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 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

More questions about Gaucher Disease
and supporting diagnostics?


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