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.

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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.

Available enzyme, biomarker, and genetic tests:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
Gaucher DiseaseGBA (acid β-glucosidase)Lyso-GL-1 (Lyso-Gb1)GBA

Differential diagnosis options:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
ASMD (Niemann-Pick Type A/B)ASM (acid Sphingomyelinase)Lyso-SPM (Lyso-Sphingomyelin)SMPD1
Niemann-Pick Type C1/D----NPC1
Niemann-Pick Type C2----NPC2
Lysosomal acid Lipase Deficiency (LALD)LAL (lysosomal acid Lipase)--LIPA


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


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

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.

How to Order Gaucher Diagnostic Services

Ordering Diagnostic Kits

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.

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

Blood Drop

2Collect the Sample


3Register the DBS Card


4Return the Sample


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

Gaucher disease 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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