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.

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.

Path to LSD Diagnosis

Available enzymatic and biomarker tests:

Disease Enzyme Biomarker
Fabry α-Galactosidase Lyso-GL-3 (Lyso-Gb3)
Pompe α-1,4-Glucosidase
Krabbe Galactosylceramidase Psychosine
Gaucher acid β-Glucosidase Lyso-GL-1 (Lyso-Gb1)
ASMD (Niemann-Pick Type A/B) acid Sphingomyelinase Lyso-SPM
Mucopolysaccharidoses
I L-Iduronidase
II Iduronate-2-sulfatase
IIIB N-α-Acetylglucosaminidase
IVA N-Acetylgalactosamine-6- sulfate-sulfatase
IVB β-D-Galactosidase
VI Arylsulfatase B
VII β-Glucuronidase
GM1-gangliosidosis β-D-Galactosidase
GM2-gangliosidosis β-Hexosaminidase A; total β-Hexosaminidase (A+B)
Neuronal Ceroid Lipofuscinosis 1 Palmitoyl protein thioesterase
Neuronal Ceroid Lipofuscinosis 2 Tripeptidyl peptidase I
Wolman Disease (LALD) Lysosomal acid Lipase

LSD Panel Diagnostics

In addition to our disease specific genetic testing, we offer complete LSD gene panels.

Explore our LSD Panels

Available genetic tests:

Disease Gene(s)
Fabry GLA
Pompe GAA
Krabbe GALC
Gaucher GBA
ASMD (Niemann-Pick Type A/B) SMPD1
Gaucher and related disorders SMPD1, NPC1, NPC2, PSAP
Mucopolysaccharidoses IDUA, IDS, SGSH, NAGLU, HGSNA, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1
Mucolipidoses NEU1, GNPTAB, GNPTAG, GNPTG, MCOLN1
Neuronal Ceroid Lipofuscinosis PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CLN9, CTSD, GRN, ATP13A2, CTSF, KCTD7
Glycogen storage GYS1, GYS2, G6PC, SLC37A4, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKG2, PHKB, PGAM2, SLC2A2, LDHA, ALDOA, ENO3, GYG1, PRKAG2
Mannosidase Deficiency MAN2B1, MANBA, MANBAL
GM1-gangliosidosis Type I, II, III (MPS IVB) GLB1
GM2-gangliosidosis HEXA, HEXB
Metachromic leukodystrophy ARSA
Alexander GFAP
Fucosidosis FUCA1
Farber lipogranulomatosis ASAH1
Cystinosis CTNS
Galactosialidosis CTSA
Danon disease (GSD type IIB) LAMP2
Wolman Disease (LALD) LIPA
Schindler NAGA
Sialic Acid Storage SLC17A5
Multiple Sulfatase Deficiency SUMF1

Quality:

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

Methodologies used:

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

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.

Clinical Symptoms:

Common symptoms may include developmental delay, seizures, difficulty breathing and swollen abdomen (e.g. liver).

More questions about LSDs
and supporting diagnostics?

How to Order LSD Diagnostic Services

ARCHIMEDlife Sampling Kit

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.

These 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 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

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and supporting diagnostics?

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