Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Test Name/Synonym:

Familial Variant – WES Follow-Up (Synonyms: WES_FV, Exome)

Ordering Alert:

Ordering may be restricted based on clinical specialty. Please contact Molecular Genetics if you have questions about ordering restrictions (see contact information below).

Variants of uncertain significance are only available for familial segregation testing to aid in variant interpretation.

Collection Alert:

Unopened dedicated tubes (do not share) are required for Molecular Genetics testing.

LABID (Connect Care):

LAB41611

Specimen Type:

Blood, Tissue, DNA, Amniotic Fluid, Pleural Fluid, Other

Specimen Source:

Indicate a specimen source

Primary Container:

Lavender top EDTA

Alternate Containers:

Microcollection EDTA
Sterile polypropylene centrifuge tube
DNA tube
Sterile container

Minimum Collection Volume:

See Specimen Collection Requirements

Specimen Collection Requirements:

For Blood Specimen (peripheral or cord blood)
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw

For Patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
For Patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
For Neonates: 1 EDTA containing a minimum of 0.5 mL of blood

For Postnatal (cord blood)

A maternal blood sample must be collected for maternal cell contamination studies.

For Prenatal Specimens (chorionic villi or amniotic fluid)

For Chorionic Villi specimens: 15 mg
For Amniotic Fluid specimens: 25 mL
Submit in a sterile polypropylene centrifuge tube or in a plain sterile tube with screw cap.
A maternal blood sample must be collected for maternal cell contamination studies.

For Other Tissue Specimens

For Fresh or Frozen Tissue specimens: Submit a minimum of 20 mg in a sterile container with NO fixative.
For Cultured Cells: Confluent (overgrown) T25 flask (or equivalent) placed in transport media (for Molecular Genetics South only).

For Extracted DNA

Submit 10ug @ >100ng/uL.

For Pleural Fluid Specimen

Will attempt DNA extraction on any amount received
Submit in a sterile container with screw cap.

Test Resources:

Pre-test Counselling Information-Genetic and Genomic Testing Submit request using the applicable requisition or Connect Care online order entry:

Whole Exome Sequencing (WES) Requisition

Please ensure all required information, including patient's clinical history/indication, gene(s), variant(s), transcript(s), and DNA and protein change(s) to be tested, is provided on the requisition.

Stability and Storage:

Room temperature: For all specimen types (except frozen tissue) if being shipped on same day of collection (preferred).
Refrigerated: If shipping is delayed.
Frozen: Frozen tissue specimens at -20^oC to -80^oC.

Processing:

Do not centrifuge or aliquot specimens.

Transportation:

Transport all specimen types (except frozen tissue) at room 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 should be received by the Molecular Genetics 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.
And must include the original paper requisition and accompanying documentation

Molecular Genetics North Transport specimens (except extracted DNA) to Molecular Genetics Laboratory via UAH Specimen Control WMC 4B2.10.
For Extracted DNA samples only, transport specimens to Molecular Genetics Laboratory via UAH Shipping Receiving, UNIVERSITY OF ALBERTA HOSPITAL, 8440 112 STREET, Room: 8-26 MSB, EDMONTON, T6G 2B7

Blood, Amniotic Fluid, Tissue and Extracted DNA specimens

Are received Mon – Fri: 07:30 to 15:00.
If received after 15:00, will be processed on the next working day.

Chorionic Villi specimens

Are received Mon – Thurs: 07:30 to 15:00.
Cannot be received on Fridays.

If Amnio and CVS specimens are sent from outside of Edmonton for testing in Molecular Genetics 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 Molecular Genetics 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.

Molecular Genetics South
Transport specimens to Molecular Genetics Laboratory at Alberta Children’s Hospital Room B0-020.

Method:

Targeted Variant Analysis

Method and Interpretation of Results:

Sanger sequencing, dosage analysis (multiplex ligation-dependent probe amplification (MLPA), targeted CMA or quantitative PCR (qPCR)) is performed to specifically detect the pathogenic or likely pathogenic variant previously detected in a family member.

Routine Turn Around Time:

Routine: 6 to 8 weeks
Stat: 1 to 2 weeks

Reference Interval:

Interpretation provided on report

Testing Area:

Molecular Genetics

Performing Site:

University of Alberta Hospital or Alberta Children's Hospital

Additional Test Information:

To obtain buccal swab collection kits, contact:

Molecular Genetics North	Molecular Genetics South
780-407-1434	403-955-3097

Contact Comments:

For additional information refer to Genetics and Genomics webpage or contact:

Molecular Genetics North	Molecular Genetics South
780-407-1434 (phone) 780-407-1761 (fax)	403-955-3097 (phone) 403-955-7624 (fax)

Last Updated On:

Friday, June 13, 2025