Purines & Pyrimidines.

What does this test assess?

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:

• Diagnosis of Lesch-Nyhan syndrome (HPRT deficiency)
• Detection of adenosine deaminase (ADA) deficiency
• Identification of dihydropyrimidine dehydrogenase deficiency (5-FU toxicity risk)
• Investigation of immunodeficiency, neurological symptoms, or unexplained anaemia
• Screening for orotic aciduria and related disorders

Measured analytes

Analytical technique

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.