--- Query Results ---

Program:Genetics and Genomics
Test Name:Choroideremia (Gene: CHM)
Performing Site: University of Alberta Hospital
Performing Dept:Molecular Diagnostics
TAT:6 - 8 weeks
Preferred Tube/Container:See Specimen Requirements
Specimen Requirements:For Blood Specimen (peripheral or cord blood)
  • For Patients >20 kg - Collect 2 EDTA tubes each containing 3.0 to 5.0 mL of blood
  • For Patients <20 kg - Collect 2 EDTA tubes each containing 2.0 to 3.0 mL of blood
  • For Neonates           - Collect 1 EDTA containing a minimum of 0.5 mL of blood

    For Extracted DNA
  • Submit 10ug @ >100ng/uL
    Min. Sample Required:If unable to collect the minimum as per specimen requirements, contact the laboratory.
    Specimen Processing:Unopened dedicated tubes (do not share) are required for Molecular Diagnostic Laboratory testing.
    Do not spin or aliquot specimens.

    Store specimens at ambient temperature if being shipped on same day of collection (preferred). Specimens can be stored at 4 - 8oC if shipping is delayed.
    Specimen Handling:Transport specimen at ambient temperature.
    Specimens must not freeze in transit.

    Specimens, with completed requisitions, should be received by the Molecular Diagnostic Laboratory:
  • Within 5 days of date of collection for Blood and Extracted DNA specimens.

    Ship specimens (except extracted DNA) to Molecular Diagnostic Laboratory via
    UAH Specimen Control WMC 4B2.10.
    For Extracted DNA samples only, ship to Molecular Diagnostic Laboratory via
    Central Receiving, 116 St & 85 Ave, 8-26 MSB, University of Alberta, Edmonton AB, T6G 2R3.
    Blood and Extracted DNA specimensAre received Mon – Fri: 7:30am to 3:00pm.
    If received after 3:00pm, will be processed on the next working day.
    Requisition/Form:All requests MUST be submitted on a Molecular Diagnostic Laboratory Requisition.

    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
    Method:Sanger Sequencing and MLPA
    Method Details:Sanger Sequencing: Coding region of CHM gene
    MLPA: Detects partial or whole gene deletions and duplications
    Reference Interval:Interpretation provided on report.
    Comments:For additional information refer to Genetic Laboratory Services webpage or
    contact MDL North at UAH at 780-407-1434 (phn) or 780-407-1761 (fax).
    Last Updated On:Wednesday, March 7, 2018
    Date of Last Review:Jan 2 2018 12:00AM