Microcollect specimens are unsuitable. DO NOT FREEZE . Whole blood must be transported at room temperature and received in the laboratory within 24h of collection to ensure white cell viability and accurate results. Samples with clots are unsuitable .
We can accept samples up to NOON (12pm) prior to the weekend or a public holiday to allow for laboratory processing. Please inform laboratory on ext 22016 or via LabLink of specimen transport arrangements and an URGENT sticker is recommended.
Normal: <0.2 nmol half-cystine/mg protein.
Affected patients: 1.3 - 11.6 nmol half-cystine/mg protein
WBC 1/2 cystine (nmol/mg protein) UOM is 23%
Test is available urgently if required contact laboratory on x22016 or via LabLink
This test is used for the diagnosis and monitoring of cystinosis.
Cystinosis is a rare disorder of lysosomal cystine transportation. It results in kidney, eye, thyroid and muscle disease. It usually presents in early childhood with failure to thrive, rickets and polyuria/polydipsia (renal Fanconi syndrome). Diagnosis is the finding of a significantly elevated white cell cystine.
Treatment of cystinosis is with Cysteamine (Cystagon ? ). This removes lysosomal cystine. The mean elimination half-life of Cystagon capsules is approximately 1.5 hours. It is recommended that the leukocyte cystine levels should be measured 5 to 6 hours after Cystagon administration, with the goal of maintaining the levels < 1 nmol of half-cystine/mg protein.
For further information contact laboratory: ext 22016 or via Lablink.
or, Dr Callum Wilson, Metabolic Physician: Ph 021 555 392
or, Dr Emma Glamuzina, Metabolic Physician: Ph 021 403 617