Urinary SAICAR and succinyladenosine measurement by LC-MS/MS for diagnosis of purine synthesis defects.
This method detects specific biomarkers for adenylosuccinate lyase (ADSL) deficiency and ATIC deficiency, two rare but clinically significant disorders of de novo purine synthesis.
Clinical indications include:
SAICAR (succinylaminoimidazole carboxamide riboside) and succinyladenosine (S-Ado).
Both analytes are measured simultaneously by LC-MS/MS from a single urine sample, providing high sensitivity and specificity for these rare disorder-specific biomarkers.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.