Collect 1.0 mL (minimum 025 mL); no preservatives, urine. No specific restrictions.
Freeze immediately and ship frozen on dry ice.
Ship samples by guaranteed overnight courier* to arrive Monday-Thursday at performing laboratory. SATURDAY AND HOLIDAY DELIVERIES ARE NOT ACCEPTED.
*Do not use U.S. Postal Express as samples may take 3-4 days to arrive and will be unusable.
Samples exposed to higher temperatures for longer than 4 hours (e.g. shipped unfrozen during warm weather)
Improperly labeled specimens
Stable isotope dilution- UPLC-tandem mass spectrometry
Urinary S-sulfocysteine is a stable biomarker for isolated sulfite oxidase deficiency and molybdenum cofactor disorders. Urinary S-sulfocysteine is a more reliable test for these disorders than the commercial dipstick method for sulfite detection, which is unreliable due to rapid oxidation of sulfite to sulfate at room temperature.
S-sulfocysteine level is compared with age-matched control ranges. The current alert values are in the range 200-2000 µmol/g creatinine.
The result is interpreted by an ABMGG board-certified laboratory director. High priority may be given to samples from known patients or a patient suspected to have a metabolic disorder based upon a Genetics consult (pager 970-2200). Preliminary results can be made available upon request. Please contact Biochemical Genetics Lab at (919) 549-0445.