Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Rapid Aneuploidy Detection (Synonyms: RAD, Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy, Down Syndrome)

Clinical Indications:

Down syndrome, Trisomy 21, Trisomy 13, Trisomy 18, Ambiguous genitalia, sex reversal

Ordering Alert:

RAD testing is not recommended for indications of possible Turner syndrome.
Chromosome analysis / karyotype would be the preferred test.

Collection Alert:

Unopened dedicated tubes (do not share) are required for analysis.

LABID (Connect Care):

LAB4100

Specimen Type:

Blood, Swab, Urine, Tissue, DNA, Amniotic Fluid (AF), Chorionic Villi (CVS), Pleural Fluid, Other

Specimen Source:

Indicate a specimen source.

Primary Container:

See Specimen Collection Requirements

Minimum Collection Volume:

If unable to collect the minimum as per specimen requirements, contact the laboratory.

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 (AF) specimens: 25 mL
- Note: If submitting AF to Cytogenetics South, for possible microarray submit a minimum of 25 mL split into 3 sterile 15 ml polypropylene tubes.
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 Tissue Specimens

For Fresh Tissue specimens: Submit a minimum of 20 mg in a sterile container with NO fixative.
- Note: Molecular Genetics North prefers fresh tissue but will accept frozen tissue specimens.
Preferred specimen type: umbilical cord, skin, spleen, lung, thymus, kidney, or muscle
Other tissue specimens are acceptable but quality of DNA obtained may be suboptimal for this assay. Placental or products of conception (POCs) are at risk of maternal cell contamination and will be tested as a last resort if they are the only specimen available.
Products of conception or placental tissues must be submitted with a maternal blood specimen collected for maternal cell contamination studies and completed requisition.

For Extracted DNA

Submit 10ug @ >100ng/uL.

For Buccal Swab Specimens

Collect 4 buccal brushes.

For Pleural Fluid Specimen

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

For Urine Specimens

Collect first morning urine (NOT mid stream).
Submit 50 to 100 mL in a sterile urine container.
Note: Can submit from multiple collections throughout the day if patient catheterized or unable to provide in a single collection.

Test Resources:

Aneuploidy Detection for Newborns Information Sheet

Genetic Investigation of Stillbirth or Fetal Loss Information Sheet

Submit requests using requisition or Connect Care online order entry:

Cytogenetic Analysis, Constitutional Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

If submitting tissue specimens from multiple specimen sources on a patient, submit each specimen, in a separate specimen bag with a separate requisition.

Stability and Storage:

Blood, Amniotic Fluid, Chorionic Villi, Urine, Swab, DNA or other	Room temperature if being shipped on same day of collection (preferred). Refrigerated if shipping is delayed.
Tissue	Room temperature: up to 1 hour following collection. Refrigerated: from 1 hour following collection until transported. Frozen: accepted at Molecular Genetics North only

Processing:

Blood, Amniotic Fluid, Chorionic Villi, Urine, Swab, DNA or other	DO NOT centrifuge or aliquot specimen.
Tissue	DO NOT put tissue in formalin. If submitting to Cytogenetics South: DO NOT freeze tissue For specimens from outside Calgary, please call Anatomical Pathology, Alberta Children's Hospital (403-955-7385) for further processing and handling information.

Transportation:

Submitting to Molecular Genetics North
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

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.

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, Buccal Swab, Pleural fluid, and Extracted DNA specimens

Are received Monday through Friday: 07:30 to 15:00.
If received after 15:00, will be processed on the next working day.

Chorionic Villi specimens

Are received Monday through Thursday: 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.

Submitting to Cytogenetics South
Specimens should be received in the laboratory on the day of collection (preferred) or within 24 hours of time of collection.

Specimens that cannot be transported to be received during the Cytogenetics Laboratory hours of operation (Monday through Friday 08:00 to 16:00) should be stored at appropriate temperature and forwarded to the laboratory on the next business day.

Transport all specimen types (except fresh placental or fetal material) at room temperature.
Specimens must not freeze in transit.

Transport fresh placental or fetal material at 4 to 8^oC to Anatomical Pathology at the Alberta Children's Hospital (ACH).
ACH Anatomical Pathology will forward tissue specimens that quality for Molecular or Cytogenetic testing to Cytogenetics South Laboratory ACH B0-150 in a 5 mL sterile polypropylene tube.

Call the Cytogenetics Laboratory at 403-955-7375 to notify that prenatal specimens are being transported.

Method:

QF-PCR

Method and Interpretation of Results:

Detects aneuploidy for chromosomes 13, 18, 21, X and Y

Routine Turn Around Time:

Blood and Prenatal: 2-3 business days
Tissue: 6 weeks

Testing Area:

Molecular Genetics North or Cytogenetics South

Performing Site:

University of Alberta Hospital or Alberta Children's Hospital

Additional Test Information:

The collection of the chorionic villi is only performed at the Maternal Fetal Medicine Clinic, Royal Alexandra Hospital in Edmonton or the Calgary Maternal Fetal Medicine Center.

Contact Cytogenetics North 780-407-1542	To order CVS transport media tubes
Contact Cytogenetics South 403-955-7375	To order CVS transport media tubes or tissue transport media

Karyotype on Amniotic Fluid

If RAD testing is abnormal, karyotype testing will then be added on as a reflex test.
If a sample is received with an indication of a family history of a chromosomal abnormality or follow up chromosomal/FISH analysis, karyotype /FISH testing may be performed at the discretion of the Cytogeneticist.

Karyotype on Chorionic Villi only Cytogenetics South and North

Chorionic Villi will also include RAD testing with karyotype testing.
Karyotyping will NOT be performed on CVS specimens collected for single gene testing.
For constitutional cytogenetics on all patients over 6 months of age that are not inpatients, refer to: Cytogenetic Analysis, CMA or Cytogenetic Analysis, Constitutional

For maternal screens, refer to: Maternal Serum Prenatal Screen Second Trimester - Blood.

Contact Comments:

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

Cytogenetics North	Cytogenetics South
780-407-1542 (phone) 780-407-3059 (fax)	403-955-7375 (phone) 403-955-3000 (fax)

Last Updated On:

Monday, October 21, 2024

Date of Last Review:

Aug 1 2022 12:00AM