--- Query Results ---

  
Program:Genetics and Genomics
 
Test Name:Half Cystine Quantitation (G&G South ACH)
Test Code:CYSTINOSIS
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:ARRANGED - prior arrangement is required before ordering - see additional test information.
TAT:21 days
 
Preferred Tube/Container:Sodium heparin (dark green - NOT PST)
 
Specimen Requirements:1.  Samples should be collected at ACH.
2.  Collect 2 x 4.0mL Sodium heparin tubes. Tubes must be FULL.
 
Min. Sample Required:8.0 mL whole blood
 
Specimen Processing:1.  Do NOT centrifuge.
2.  Place samples on ice.
 
Specimen Handling:Immediately transport to ACH Biochemical Genetics Lab or call ACH Biochemical Genetics Lab
(403-955-7379) for sample pick-up.
 
Additional Information:The ACH Biochemical Genetics Lab (403-955-7379) must be notified at least 24 hours before sample collection to ensure a member of the lab is present to immediately process the specimen.
 
Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
 
Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.
 
Indications:This test is for the investigation of cystinosis, and for monitoring known cystinosis patients on cysteamine (e.g., Cystagon, Procysbi) therapy.
Method:Half cystine is detected using liquid chromatography, electrospray-ionization tandem mass spectrometry (LS-MS/MS) with a deuterium-labelled internal standard.
Method Details:Proper interpretation of results in known cystinosis patients on treatment is dependent on the timing of the patient’s last dose.
Metabolite reported:
  • half cystine
  •  
    Reference Interval:
    Half cystine            (controls) 0.06 - 0.18 nmol/mg protein
                      (treated patients)        <2 nmol/mg protein
                  (untreated patients)        >2 nmol/mg protein
     
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
     
     
    Last Updated On:Monday, February 5, 2018
    Date of Last Review:Jan 2 2018 12:00AM