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.

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.

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 Next-Generation Sequencing platforms.

Panel Diagnostics

Seven enzymatic tests from a single Dried Blood Spot

Path to MPS diagnosis

Available enzymatic tests:

Enzyme:
MPS I
α-L-Iduronidase

MPS II
Iduronate-2-sulfatase

MPS IIIB
N-α-Acetylglucosaminidase

MPS IVA
N-Acetylgalactosamine-6-sulfate-sulfatase

MPS IVB
ß-D-Galactosidase

MPS VI
Arylsulfatase B

MPS VII
ß-Glucuronidase

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
IDUA Mucopolysaccharidosis Type I 252800 AR
Mucopolysaccharidosis Type IH
Mucopolysaccharidosis Type IH
IDS Mucopolysaccharidosis Type II 300823 XLR
SGSH Mucopolysaccharidosis Type IIIA 605270 AR
NAGLU Mucopolysaccharidosis Type IIIB 609701 AR
HGSNAT Mucopolysaccharidosis Type IIIC 610453 AR
GNS Mucopolysaccharidosis Type IIID 604664 AR
GALNS Mucopolysaccharidosis Type IVA 612222 AR
GLB1 Mucopolysaccharidosis Type IVB
(GM1-gangliosidosis Type I-III)
611458 AR
ARSB Mucopolysaccharidosis Type VI 611542 AR
GUSB Mucopolysaccharidosis Type VII 611499 AR
Diagnostic Panel Gene(s)
Mucopolysaccharidoses
Gene Panel
ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

Differential Diagnosis options:

α-Mannosidosis:
Enzyme:
α-Mannosidase

Gene Associated disease(s) OMIM # Inheritance
MAN2B1 α-Mannosidosis 609408 AR
GNPTAB Mucolipidosis Type I alpha/beta 607840 AR
Mucolipidosis Type III alpha/beta
GNPTG Mucolipidosis Type III gamma 607838 AR

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].

Clinical Symptoms:

Common symptoms include physical changes (such as abnormal bone size), enlarged organs, pain, impaired motor function and developmental delay.

More questions about Mucopolysaccharidosis
and supporting diagnostics?

How to Order MPS Diagnostic Services

ARCHIMEDlife Sampling Kit

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.

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 though our easy and secure WEBPORTAL and receive your eletronic 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 MPS
and supporting diagnostics?

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