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:
|Disease||Enzyme Tests||Biomarker Tests||Genetic Tests|
|Gaucher||acid β-Glucosidase||Lyso-GL-1 (Lyso-Gb1)||GBA|
|ASMD (Niemann-Pick Type A/B)||acid Sphingomyelinase||Lyso-SPM||SMPD1|
|MPS IVA||N-Acetylgalactosamine-6- sulfate-sulfatase||GALNS
|MPS VI||Arylsulfatase B||ARSB|
|Mucopolysaccharidoses Gene Panel||IDUA, IDS, SGSH, NAGLU, HGSNA, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1|
|GM2-gangliosidosis||β-Hexosaminidase A; total β-Hexosaminidase (A+B)||HEXA, HEXB|
|Neuronal Ceroid Lipofuscinosis 1||Palmitoyl protein thioesterase||PPT1|
|Neuronal Ceroid Lipofuscinosis 2||Tripeptidyl peptidase I||TPP1|
|Neuronal Ceroid Lipofucsinoses||PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CLN9, CTSD, GRN, ATP13A2, CTSF, KCTD7|
|Wolman Disease (LALD)||Lysosomal acid Lipase||LIPA|
|Mucolipidoses||NEU1, GNPTAB, GNPTAG, GNPTG, MCOLN1|
|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|
|Danon disease (GSD type IIB)||LAMP2|
|Sialic Acid Storage||SLC17A5|
|Multiple Sulfatase Deficiency||SUMF1|
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
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 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