Warnex has announced that its Warnex Medical Laboratories division will serve as a central laboratory across Canada for Genzyme Canada 's lysosomal storage disorders testing programme.
This programme will assist physicians in diagnosing Fabry (male), Gaucher, Pompe and Mucopolysaccharidosis Type I (MPS I) diseases.
In the context of this program, Warnex will perform an enzymatic assay specific to each disease using dried blood spots.
This method offers a simple type of sampling procedure that can be easily performed by pricking the finger and applying drops of blood to a blotting paper.
Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic disorders resulting from the malfunction of lysosomes, a specific organelle in the body's cells.
The symptoms of lysosomal storage disorders vary, depending on the particular disorder and other variables like the age of onset, and can be mild to severe.
If diagnosed late and/or left untreated, patients are at risk of developing significant, irreversible damage and loss of body functions, as well as life-threatening complications.
They can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness, enlarged livers (hepatomegaly), enlarged spleens (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.
Early diagnosis of these rare diseases is critical but it can be challenging for several reasons.
Signs and symptoms of many LSDs often mimic those of other more common diseases and outward characteristics may be subtle and easily overlooked.
This programme aims to facilitate early diagnosis by making blood spot testing available for physicians to use with patients who have symptoms associated with LSDs.
