Cystine

Cystinosis

Chemical Pathology - Enzyme

For the diagnosis and monitoring of cystinosis by measuring the cystine concentration in leucocytes using LCMS

1. 5 - 10 mL lithium heparin whole blood or

2. Chorionic villi or

3. Cultured chorionic villi or

4. Cultured amniotic cells or

5. Cultured fibroblasts

1. Send whole blood at ambient room temperature to reach the lab within 24 hours of collection. Samples older than 24 hours are NOT suitable for analysis

2. Contact the Enzyme Laboratory PRIOR to sampling and shipping

3. Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

1. 4 to 6 weeks

2. As soon as practically possible

3. As soon as practically possible

4. As soon as practically possible

5. 4 to 6 weeks

Cystinosis, Cystine storage disease

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes