Diagnostic Services for Lysosomal Storage Disorders

Proven and certified diagnostic services delivering reliable results for the diagnosis of Lysosomal Storage Disorders (LSDs) using advanced analytical techniques including enzyme, biomarker, and genetic testing.

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Premium diagnostic services for
Lysosomal Storage Disorders.
From enzyme and biomarker to genetic confirmation.

Path to LSD Diagnosis

We have a long history of providing advanced diagnostic services for several Lysosomal Storage Diseases to support physicians and their patients. In the last years, over 5,000 patients have been diagnosed with help from our diagnostic service programs. From children to adults, our services are ideal for the identification of Lysosomal Storage Diseases in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history.

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 enzymatic, biomarker, and genetics tests:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
Fabryα-GalactosidaseLyso-GL-3 (Lyso-Gb3)GLA
Pompeα-1,4-GlucosidaseGAA
KrabbeGalactosylceramidasePsychosineGALC
Gaucheracid β-GlucosidaseLyso-GL-1 (Lyso-Gb1)GBA
ASMD (Niemann-Pick Type A/B)acid SphingomyelinaseLyso-SPMSMPD1
Mucopolysaccharidoses
MPS IL-IduronidaseIDUA
MPS IIIduronate-2-sulfataseIDS
MPS IIIBN-α-AcetylglucosaminidaseNAGLU

MPS IVAN-Acetylgalactosamine-6- sulfate-sulfataseGALNS
MPS IVBβ-D-GalactosidaseGLB1
MPS VIArylsulfatase BARSB
MPS VIIβ-GlucuronidaseGUSB
Mucopolysaccharidoses Gene PanelIDUA, IDS, SGSH, NAGLU, HGSNA, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1
GM1-gangliosidosisβ-D-GalactosidaseGLB1
GM2-gangliosidosisβ-Hexosaminidase A; total β-Hexosaminidase (A+B)HEXA, HEXB
Neuronal Ceroid Lipofuscinosis 1Palmitoyl protein thioesterasePPT1
Neuronal Ceroid Lipofuscinosis 2Tripeptidyl peptidase ITPP1
Neuronal Ceroid LipofucsinosesPPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CLN9, CTSD, GRN, ATP13A2, CTSF, KCTD7
Wolman Disease (LALD)Lysosomal acid LipaseLIPA
MucolipidosesNEU1, GNPTAB, GNPTAG, GNPTG, MCOLN1
Glycogen storageGYS1, GYS2, G6PC, SLC37A4, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKG2, PHKB, PGAM2, SLC2A2, LDHA, ALDOA, ENO3, GYG1, PRKAG2
Mannosidase DeficiencyMAN2B1, MANBA, MANBAL
Metachromic leukodystrophyARSA
AlexanderGFAP
FucosidosisFUCA1
Farber lipogranulomatosisASAH1
CystinosisCTNS
GalactosialidosisCTSA
Danon disease (GSD type IIB)LAMP2
SchindlerNAGA
Sialic Acid StorageSLC17A5
Multiple Sulfatase DeficiencySUMF1

About Lysosomal Storage Disorders

What are Lysosomal Storage Disorders?

Lysosomal Storage Disorders (LSDs) are a larger subgroup of nearly 50 inherited genetic disorders. LSDs are often characterized by abnormal storage of substances in cells affecting multiple organs.

What causes an enzyme deficiency?

Defects in lysosomal enzyme activity are caused when the gene responsible for coding the enzyme has a mutation. Insufficient or absent enzyme activity results in an accumulation of toxic metabolic substrates ending in cellular degradation. LSDs are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others.

Do LSDs all have the same symptoms?

Clinical symptoms observed for LSDs vary depending on the specific enzyme deficiency with many LSDs presenting as a neurodegenerative disease. Most clinical manifestations are multi-system and vary from mild to severe forms with potentially early death.

How to Order LSD Diagnostic Services

Ordering Diagnostic Kits

Our tests and diagnostic panels for Lysosomal Storage Disorders typically include an enzymatic pre-test targeting enzyme deficiency and additional biomarker testing where available. In cases of positive or conspicuous pre-test results, genetic molecular analysis can be included.

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 though our easy and secure WEBPORTAL and receive your eletronic medical report in five simple steps.

Five Simple Steps


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1Order Sampling Kit

Blood Drop

2Collect the Sample

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3Register the DBS Card

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4Return the Sample

Download

5Receive your Report

Diagnostic Services

View our full selection of biochemical, biomarker, and genetic tests in our exclusive WEBPORTAL.

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