Diagnostic Services for
Gangliosidoses

A proven and certified diagnostic service delivering reliable results for GM1 and GM2 Gangliosidosis using advanced analytical techniques including enzyme and genetic testing.

Premium diagnostic services for
GM1 and GM2 Gangliosidosis.
From enzyme to genetic confirmation.

Path to GM1 and GM2 Gangliosidosis Diagnosis

Our service is an excellent option for the identification of GM1 and GM2 Gangliosidosis in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of Gangliosidosis.

Testing is fast and safe using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough samples 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 assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.
Path to GM1-GM2 Gangiosidosis diagnosis

Available enzymatic and biomarker tests:

Enzyme:
GM1 Gangliosidosis
β-Galactosidase

Tay–Sachs disease
β-Hexosaminidase A

Sandhoff disease
β-Hexosaminidase A and B

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
GLB1 GM1-gangliosidosis Type 1-III
(MPS IVB)
611458 AR
HEXA Tay-Sachs disease 606869 AR
GM2-gangliosidosis, several forms
Hex A Pseudodeficiency
HEXB Sandhoff disease 606873 AR
GM2A GM2-gangliosidosis, AB variant 613109 AR

Differential diagnosis options: 

Mucopolysaccharidoses:
Enzyme:
Multiple enzymes

Gene Associated disease(s) OMIM # Inheritance
NEU1 Mucolipidosis I 608272 AR
GNPTAB Mucolipidosis II alpha/beta 607840 AR
Mucolipidosis III alpha/beta
GNPTG Mucolipidosis III gamma 607838 AR
MCOLN1 Mucolipidosis IV 605248 AR

About GM1 and GM2 Gangliosidosis

What is Gangliosidosis?

Gangliosidoses are a group of Lysosomal Storage Disorders that progressively destroy nerve cells (neurons) in the brain and spinal cord.

GM1 Gangliosidosis
Classified into three major types based on the age of disease onset:

  • Classic infantile (Type I, up to 6 months of age)
  • Juvenile (Type II, 18 months to 5 years of age)
  • Adult onset/chronic (Type III, > 5 years of age)

GM2 Gangliosidosis
Group of three related genetic disorders:

  • Tay–Sachs disease
  • GM2 Gangliosidosis, Variant AB
  • Sandhoff disease

Which mutation causes an enzyme deficiency?

These disorders are caused by a genetic mutation resulting in different enzyme deficiencies. Deficient enzyme activity leads to toxic accumulation of gangliosides in body tissues, particularly in the central nervous system (CNS). The degree of accumulation of gangliosides in visceral organs, including the liver, is variable and depends on the disease subtype. Disorders related to defects of ganglioside synthesis are very rare.

Are there diseases with similar symptoms to GM1 or GM2 gangliosidosis?

Common symptoms such as corneal clouding and hepatosplenomegaly are seen in other lysosomal storage disorders such as Mucolipidosis Type I and Mucopolysaccharidoses Types I and II. Developmental delay and growth abnormalities are also observed with Mucolipidosis Types II and III.

Clinical Symptoms:

Common symptoms include hepatosplenomegaly, developmental and neurological regression, and corneal clouding.

More questions about GM1+GM2
and supporting diagnostics?

How to Order GM1 and GM2 Gangliosidosis Diagnostic Services

ARCHIMEDlife Sampling Kit

Our Diagnostic Service for GM1 and GM2 Gangliosidosis includes enzyme testing for β-Galactosidase (GM1 Gangliosidosis), β-Hexosaminidase A (Tay–Sachs disease) and β-Hexosaminidase A and B (Sandhoff disease) 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 GM1+GM2 Gangliosidosis
and supporting diagnostics?

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