Diagnostic Services for Mucopolysaccharidosis

A proven and certified diagnostic service delivering reliable results for the diagnosis of several Mucopolysaccharidoses using advanced analytical techniques including enzyme and genetic testing.

Discover our Diagnostics

Premium diagnostic services for
Mucopolysaccharidosis (MPS).
From enzyme to genetic confirmation.

Path to MPS Diagnosis

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

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.

Available enzymatic and genetic tests:

Disease	Enzyme Tests	Genetic Tests
MPS I Mucopolysaccharidosis Type I	α-L-Iduronidase	IDUA
MPS II Mucopolysaccharidosis Type II	Iduronate-2-sulfatase	IDS
MPS III Mucopolysaccharidosis Type III	N-α-Acetylglucosaminidase (MPS IIIB)	SGSH (MPS IIIA), MAGLU(MPS IIIB), HGSNAT (MPS IIIC), GNS (MPS IIID),
MPS IVA Mucopolysaccharidosis Type IVA	N-Acetylgalactosamine-6-sulfate-sulfatase	GALNS
MPS IVB Mucopolysaccharidosis Type IVB	ß-D-Galactosidase	GLB1
MPS VI Mucopolysaccharidosis Type VI	Arylsulfatase B	ARSB
MPS VII Mucopolysaccharidosis Type VII	ß-Glucuronidase	GUSB
Mucopolysaccharidoses Gene Panel	--	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

Differential diagnosis options:

Disease	Enzyme Tests	Genetic Tests
α-Mannosidosis	α-Mannosidase	MAN2B1
Mucolipidosis Type I alpha/beta Mucolipidosis Type III alpha/beta	--	GNPTAB
Mucolipidosis Type III gamma	--	GALNS

Quality:

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

Methodologies:

Enzyme assays by Clinical Mass Spectrometry.
Genetics by Next-Generation Sequencing.

About MPS

What is MPS?

Mucopolysaccharidoses (MPSs) are a group of chronic, progressive lysosomal storage diseases (LSDs) caused by an enzyme deficiency leading to an accumulation of glycosaminoglycans in the body resulting in multi-system impairments.

Which mutation causes an enzyme deficiency?

These disorders are caused by different enzyme deficiencies resulting in the inability to break down glycosaminoglycans (formerly called mucopolysaccharides) into smaller sugar molecules. Consequently, glycosaminoglycans including chondroitin sulfate, dermatan sulfate, heparan sulfate, keratan sulfate, and/or hyaluronic acid accumulate leading to impaired cell function.

What are the affects of Mucopolysaccharidoses?

For individuals affected with MPS, glycosaminoglycans accumulate in arteries, eyes, skeleton, joints, skin, ears, and/or teeth. Glycosaminoglycans can also build-up in the respiratory system, spleen, liver, central nervous system, bone marrow, and blood. Depending on which of the eleven known enzymes are affected as well as the level of enzyme activity, different clinical manifestations are described varying from mild to severe forms with early death.

Are there differential diagnoses of Mucopolysaccharidoses?

Mucolipidosis, a lysosomal storage disorder involving the accumulation of lipids, shares some of the same clinical symptoms as MPSs such as growth defects and neurological damage. Another LSD, α-Mannosidosis, has been discovered in patients suspected of MPS [1].

How to Order MPS Diagnostic Services

Our Diagnostic Service for Mucopolysaccharidoses includes testing for several MPSs including enzyme assays for MPS I, II, IIIB, IVA, IVB, VI and VII 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.