Urinary SAICAR and succinyladenosine measurement by LC-MS/MS for diagnosis of purine synthesis defects.
2 analytes
3–5 working days
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.
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.
SAICAR (succinylaminoimidazole carboxamide riboside) and succinyladenosine (S-Ado) are specific biomarkers for defects in de novo purine synthesis — specifically adenylosuccinate lyase (ADSL) deficiency and ATIC deficiency (AICA-ribosiduria). These metabolites accumulate upstream of the enzymatic block and are excreted in urine at elevated concentrations.
ADSL deficiency causes psychomotor retardation, seizures, and autistic features. Early identification allows genetic counselling, family screening, and potential therapeutic interventions. These biomarkers are highly specific — they are not elevated in other conditions, making them excellent diagnostic markers with very low false-positive rates.
A urine sample is collected using a standard collection container. No special timing, fasting, or preparation is required. The sample is 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 sensitive and specific quantification of SAICAR and succinyladenosine.
SAICAR testing should be considered in cases of unexplained developmental delay, seizures of unknown origin (especially in infancy), autistic features combined with motor impairment, or as part of a comprehensive metabolic workup when other first-line investigations have been unrevealing.
Masdiag's SAICAR and succinyladenosine 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.