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Program:Genetics and Genomics
Test Name:Torsion Dystonia, Autosomal Dominant (Gene: TOR1A)
Alternate Test Name:DYT1
Performing Site: Alberta Children's 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 Prenatal Specimens
    Submit in a sterile 15 mL or 50 mL polypropylene centrifuge tube or in a plain sterile tube with screw cap
  • For Chorionic Villi specimens -  Submit a minimum of 15 mg
  • For Amniotic Fluid specimens - Submit a minimum of 25 mL
    NOTE: A maternal blood sample (as outlined above) must be collected for maternal cell contamination studies.

    For Other Tissue Specimens
  • For Fresh or Frozen Tissue specimens - Submit > 20mg in a sterile container with NO fixative.
  • For Cultured Cells                                    - Confluent (overgrown) T25 flask (or equivalent)
                                                                              placed in transport media.

    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.

    For all specimen types (except frozen tissue) 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.

    Store frozen tissue specimens at -20oC to -80oC.
    Specimen Handling:Transport all specimen types (except frozen tissue) at ambient temperature.
    Specimens must not freeze in transit.

    Transport frozen tissue specimens with adequate amounts of dry ice to keep specimen frozen.
    Specimens must not thaw in transport.

    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.
  • Within 24 hours of date of collection for Amniotic Fluid, Chorionic Villi and Tissue specimen types.

    Ship specimens to Molecular Diagnostic Laboratory at Alberta Children’s Hospital Room B0-020.
    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.
    Order Restrictions:Confirmation of Diagnosis1 - Genetics, Neurology
    Presymptomatic Testing2 - Genetics

    1 patient has signs or symptoms of the disease/disorder
    2 patient does not presently have symptoms, positive family history of the condition
    Method:PCR and Targeted Sequence Analysis
    Method Details:Designed to detect c.907_909delGAG (NM_000113)
    Reference Interval:Interpretation provided on report.
    Comments:For additional information refer to Genetic Laboratory Services webpage or
    contact MDL South at ACH at 403-955-7397 (phn) or 403-955-7624 (fax).
    Last Updated On:Friday, September 21, 2018
    Date of Last Review:Jan 2 2018 12:00AM