Comprehensive purine and pyrimidine profiling from urine by LC-MS/MS for detection of approximately 30 enzymatic defects.
17 analytes
3–5 working days
This panel enables detection of approximately 30 enzymatic defects in purine and pyrimidine metabolism through quantitative analysis of 17 bases and metabolites.
Clinical indications include:
17 purine and pyrimidine bases including uric acid, xanthine, hypoxanthine, adenine, guanine, orotic acid, uracil, thymine, and related metabolites.
All 17 analytes are quantified simultaneously from a single urine sample by LC-MS/MS, with stable isotope internal standards ensuring accuracy across the concentration range.
From enquiry to results — a straightforward process.
This test is available to healthcare professionals, wellness brands, clinics, and research institutions worldwide. We currently serve partners in:
Whether you need testing services for your patients, white-label kits for your brand, or method transfer to your own laboratory — get in touch to discuss how we can work together.
This test provides quantitative and qualitative analysis of purines, pyrimidines, and related metabolites in urine by LC-MS/MS. It screens for approximately 30 enzymatic defects in nucleotide metabolism by measuring 17 key bases and metabolites.
The test can detect Lesch-Nyhan syndrome (HPRT deficiency), adenosine deaminase (ADA) deficiency, purine nucleoside phosphorylase deficiency, dihydropyrimidine dehydrogenase deficiency (which is also important for predicting 5-fluorouracil toxicity risk), orotic aciduria, and other rare but clinically significant disorders of nucleotide metabolism.
A random urine sample is collected — no special timing or fasting is required. The urine is collected using a standard collection container and shipped to our laboratory following standard protocols.
Results are typically delivered within 3 to 5 working days from the time your sample arrives at our laboratory. The analysis is performed by LC-MS/MS, providing accurate quantification of purine and pyrimidine metabolites.
Testing should be considered in cases of unexplained neurological symptoms (especially in children), severe combined immunodeficiency (SCID), unexplained gout or renal stones at a young age, developmental delay with no other identified cause, or when investigating potential 5-fluorouracil toxicity risk prior to chemotherapy.
Masdiag's purines and pyrimidines test is available worldwide through our partner network. We currently serve healthcare professionals, metabolic disease centres, and clinics in Europe, the United Kingdom, Asia, Australia, New Zealand, and the United States. Contact us to discuss testing services or method transfer.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.