--- Query Results ---

Program:Genetics and Genomics
Test Name:PTEN Hamartoma Syndrome and associated developmental disorders (Gene: PTEN)
Performing Site: University of Alberta Hospital or Alberta Children's Hospital
Performing Dept:Molecular Diagnostics
TAT:Up to 16 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.

    For Molecular Diagnostics North at UAH
    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, Amniotic Fluid, Tissue and
    Extracted DNA specimens
    Chorionic Villi specimens

    Are received Mon – Fri: 7:30am to 3:00pm.
    If received after 3:00pm, will be processed
    on the next working day.
    Are received Mon – Thurs: 7:30am to 3:00pm.
    Cannot be received on Fridays.

    If Amnio and CVS specimens are sent from outside of Edmonton for testing in GLS North, please call the laboratory at 780-407-1542 or fax shipping information to 780-407-3059 to inform the lab of expected arrival times and mode of transport.
    If Tissue specimens are sent from outside of Edmonton for testing in GLS North, please call the laboratory at 780-407-1434 or fax shipping information to 780-407-1761 to inform the lab of expected arrival times and mode of transport

    For Molecular Diagnostics South at ACH
    Ship to Molecular Diagnostic Laboratory at Alberta Children’s Hospital Room B0-020.
    Requisition/Form:All requests MUST be submitted on a Molecular Diagnostic Laboratory Cancer and Endocrine Next Generation Sequencing Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
    Order Restrictions:Confirmation of Diagnosis1 - Genetics, Neurology and Pediatrics
    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:Next Generation Sequencing
    Method Details:Genomic DNA is sequenced on a NGS instrument. NGS detects nucleotide substitutions, small insertions and deletions, and copy number variants. Sanger sequencing is used to confirm all variants with clinical or uncertain significance and to analyze regions with <90% technical sensitivity by NGS. Additional deletion/duplication testing may be performed by a variety of methods, including, but not limited to: multiplex ligation-dependent probe amplification and quantitative PCR.
    Reference Interval:Interpretation provided on report.
    Comments:For additional information refer to Genetic Laboratory Services webpage or contact:

        MDL North at UAH      MDL South at ACH  
        780-407-1434 (phn)
        780-407-1761 (fax)    
        403-955-7397 (phn)
        403-955-7624 (fax)    
    Last Updated On:Tuesday, August 21, 2018
    Date of Last Review:Jan 2 2018 12:00AM