Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders affecting lysosomal metabolism. MPSs result in the accumulation of glycosaminoglycans in the body and can affect multiple systems. There are more than 7 identified MPSs caused by different genetic mutations. Due to each type of mucopolysaccharidosis having common symptoms, diagnosis can be difficult.
In 2018, we introduced our Lysosomal Enzyme Activity panel, called LEA2, which multiplexed enzyme testing for 6 different MPSs (MPS I: Hurler syndrome, MPS II: Hunter syndrome, MPS IIIB: Sanfilippo syndrome B, MPS IVA: Morquio A syndrome, MPS VI: Maroteaux Lamy syndrome and MPS VII: Sly syndrome).
To improve the differential diagnostic ability of the LEA2 enzyme panel, we have recently added Mucopolysaccharidosis Type IVB (also known as GM1-Gangliosidosis) and, based on recent study findings, alpha-Mannosidosis to the panel bringing LEA2 to over seven different MPS types or MPS-like disorders.
The LEA2 panel is complimented by our advanced genetic panels which provide reliable mutation confirmation as well as genetic screening for an MPS for which enzyme testing is not yet available.
How our panel testing works
Fast and Easy. Most of our diagnostic testing panels, including LEA2, are performed using Dried Blood Spot (DBS) technology. DBS sampling is safe and easy requiring only a few drops of blood. Once dried, these samples are easy and affordable to ship to our laboratory, saving time for both the patient and physician. DBS sampling kits can be ordered directly from our WEBPORTAL: webportal.archimedlife.com.
Comprehensive and Complete. Our LEA2 panel can speed diagnosis by performing an enzymatic pre-test for seven different MPSs plus alpha-Mannosidosis for individuals showing symptoms, even if those symptoms are non-specific. For positive enzymatic results, our medical laboratory performs genetic confirmatory testing using the power of Next-Generation Sequencing and in most cases, this testing can be done using the same dried blood spot card reducing time to diagnosis.