Comprehensive purine and pyrimidine profiling from urine by LC-MS/MS for detection of approximately 30 enzymatic defects.
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.
Purines Pyrimidines is an important biomarker for diagnosis of lesch-nyhan syndrome (hprt deficiency). Masdiag measures purines pyrimidines using validated analytical methods to provide clinically actionable results.
Purines Pyrimidines testing is valuable for Diagnosis of Lesch-Nyhan syndrome (HPRT deficiency), Detection of adenosine deaminase (ADA) deficiency. Understanding purines pyrimidines levels helps inform personalized health optimization and clinical decision-making.
Purines Pyrimidines is measured from blood. Professional collection ensures proper sample handling and accurate results.
This test is recommended for individuals interested in diagnosis of lesch-nyhan syndrome (hprt deficiency). Masdiag purines pyrimidines testing helps guide personalized supplementation and health optimization strategies based on objective biomarker data.
Purines Pyrimidines results provide insight into your metabolic status and diagnosis of lesch-nyhan syndrome (hprt deficiency). Combined with clinical context, Masdiag results inform evidence-based interventions for personalized health optimization.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.