To avoid severe complications, new in vitro diagnostic (IVD) methods have to be created for the precise and swift detection of cystinosis. With our best-in-class efforts in cystinosis investigation, Protheragen is leading the way in the development of new diagnostic tools. We serve you as the most dependable partner in diagnostic research and provide cystinosis diagnostics support like no other.
Introduction to Cystinosis
Cystinosis is an unusual, inherited metabolic disease distinguished by the excessive buildup of cystine within lysosomes, which is an organelle responsible for breaking down and recycling materials. This build-up happens because of a defect in a cystinosin transporter protein that is in charge of transporting cystine out of the lysosomes. When cystine builds up, it forms cystine crystals, resulting in a progressive involve the kidneys, eyes, liver, muscles, and brain.
| Disease Types |
Onset |
Severity |
Prevalence |
| Nephropathic (Infantile) Cystinosis |
Infancy (typically within the first year of life) |
Most severe form |
Most common form (~95%) |
| Intermediate (Juvenile) Cystinosis |
Childhood or adolescence (ages 4-15) |
Milder form |
Rare (~5%) |
| Non-Nephropathic (Ocular) Cystinosis |
Adulthood |
Mildest form |
Very rare |
Fig. 1 Activation of inflammasome-dependent and independent mechanisms in cystinosis. (Elmonem, Mohamed A., et al., 2022)
Diagnostic Biomarkers for Cystinosis
Cystinosis should be diagnosed as early as possible in order to prevent or defer the advancement of organ damage. The underlying metabolic and genetic abnormalities of cystinosis can be analyzed by specific diagnostic biomarkers. These biomarkers are essential in differential diagnosis of cystinosis and other metabolic disorders. In addition, they confirm the diagnosis of cystinosis as well as monitor the progressive stages of the disease and the effect of therapeutics.
Intracellular Cystine
Cystinosis is characterized by the abnormal buildup of cystine in lysosomes because of an impaired function of a cystine transporter. Cystine levels can be assessed in leukocytes or fibroblasts through high-performance liquid chromatography (HPLC).
CTNS Gene
Cystinosis stem from CTNS gene mutations on the chromosome 17p13 that is responsible for encoding the cystinosin transporter protein. Pathogenic variants in the CTNS genes are detectable by genetic testing using next-generation sequencing (NGS).
Urinary Biomarkers
Individuals affected by nephropathic cystinosis have excessive losses of nutrients and electrolytes in the urine. Urinary levels of amino acids, glucose, phosphate, and bicarbonate are important diagnostic biomarkers.
IVD Kits for Cystinosis
In vitro diagnostic (IVD) kits are indispensable tools for the diagnosis and management of cystinosis. These kits aid in the quick and convenient diagnosis of cystinosis, which allows for the early detection and correction of the disease. The table below indicates the existing cystinosis diagnostic kits in the market.
| Kits |
Applications |
Detection Methods |
| Intracellular Cystine Measurement Kits |
Quantify cystine levels in leukocytes or fibroblasts. |
HPLC, MS/MS |
| CTNS Gene Mutation Detection Kits |
Identify pathogenic mutations in the CTNS gene. |
PCR, NGS |
| Urine Test Kits |
Detect abnormal urinary biomarkers, such as amino acids, glucose, phosphate, etc. |
Biochemical Assays |
Our Services
Protheragen strives for improvements in diagnostic procedures and management techniques for cystinosis, a rare yet debilitating metabolic disorder. Our specialized and integrated IVD solutions aim to formulate assay kits for cystinosis, including nucleic acid and metabolite detection kits that allow detection of cystinosis in a way that is rapid, accurate, and convenient. These kits can be used with specialized diagnostic devices to improve detection specificity and sensitivity.
Featured IVD Development Services
Using advanced technologies and extensive experience in biotechnology and genetics, we aim to devise various IVD kits to meet the particular difficulties posed by cystinosis diagnosis.
- Intracellular Cystine Measurement Kit
- CTNS Gene Mutation Detection Kit
- Urinary Biomarker Detection Kit
- Plasma/Serum Metabolite Detection Kit
- Corneal Cystine Crystal Detection Kit
- Cystine Rapid Test Kit (POCT)
IVD Product Development Services
To guarantee that products adhere to the principle of excellence, Protheragen observes strict, elaborately structured workflows at every step of IVD product development.
Acknowledging the significance of point-of-care testing (POCT) in areas with limited resources, Protheragen specializes in crafting swift diagnostic tests for immediate cystinosis identification. Our companion diagnostic development services merge diagnostic tests with tailored therapies to facilitate personalized cystinosis therapies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Elmonem, Mohamed A., Koenraad RP Veys, and Giusi Prencipe. "Nephropathic cystinosis: pathogenic roles of inflammation and potential for new therapies." Cells 11.2 (2022): 190.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
