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Pathology and Laboratory Medicine
Test Catalogue

​Chromosomal Microarray (aCGH)

Cytogenetics


​Ordering Recommendation

  • ​​Ordering of this test is restricted to physicians who have been granted approval by the department of Medical Genetics

​ ​Specimen Requirements

Type​
  • ​Peripheral blood/whole blood
  • Skin or other tissue
​Container
​Collection Procedure
  • ​Invert tube several times to mix
  • Specimen must be accompanied by a completed test requisition
  • Failure to include relevant patient information may result in test results being delayed or discontinued
​Required Volume

  • Optimal Volume: 4 – 7 mL
  • Minimum Volume: 2 mL
    (Submitting the minimum volume makes it impossible to repeat the test or perform confirmatory/reflex testing. In some situations, a minimum volume may require a second collection.)
  • Pediatric Volume: 2 mL of peripheral blood or cord blood
  • 0.5 cm x 0.5 cm skin specimen
  • Blocks are accepted as received
​Stability/Storage
  • ​Ship specimens at ambient temperature
  • Specimens may be stored at 2 – 8 ° C
Grounds for Rejection​

Testing Information​ ​

Availability​
  • ​Specimens accepted Monday to Friday, 8:00 am to 5:00 pm in the Cytogenetics Laboratory
  • STAT tests are sent to Calgary within 7 days of specimen receipt
Testing Site​
  • Alberta Children’s Hospital, Calgary, AB 
Results Reporting​
  • ​Turnaround time for routine test is 28 days
  • Turnaround time for STAT is 14 days
​Reflex Testing
  • ​Reflex testing after abnormal microarray results will require either FISH by cytogenetics or qPCR by molecular methods for confirmation of array results and/or follow-up for family members
​Methodology
  • ​DNA is banked on all microarray specimens. Banked DNA will be stored at RRPL. Should further genetic testing be needed, please see Genetic Testing/Molecular Genetics
  • Infinium CyoSNP-850K v1.2 bead chip
​Clinical Interpretation
  • The array CGH technology detects gains or losses of targeted DNA sequences including aneuploidy, with high accuracy and sensitivity. It does not detect gains or losses of non-tested sequences, balanced chromosomal rearrangements such as balanced translocations or balanced inversions, point mutations, polyploidy or abnormalities of repetitive sequences and it does not reliably detect mosaicism. Failure to detect a copy number alteration at any locus does not rule out the diagnosis since disorders represented on the array can be caused by other genetic mechanisms 
  • Anomaly designation follows the most recent edition of the International System for Human Cytogenetic Nomenclature
​Specimen Retention
  • ​Banked DNA is retained for 50 years
Alternate Test Names​
  • Array
​Additional Comments
  • ​Specimens are batched and shipped to Calgary on Wednesdays; STAT specimens are shipped on other days if necessary
​SHR LIS Test Code
  • ​PB, MG (For Lab Use Only)

Testing Ordering Requirements​ ​

​Preferred Specimen Collection
  • ​Selective Test Centre at RUH or on ward
​Forms Required
​Clearance Required
  • ​Pediatricians are pre-approved to order microarray testing
  • if the requisition is incomplete or the test is ordered by a physician who is not approved, DNA will be extracted and sent to RRPL for banking until testing can proceed
  • If you require any other genetic test refer to Genetic testing/Molecular genetics for ordering information
  • If planning to request testing or if the specimen has already been collected, DNA banking can be requested until approval can be obtained from Medical Genetics

Patient History​ ​

​Relevant Clinical History
  • Developmental Delay/MR               
  • Prenatal growth retardation
  • Postnatal growth anomalies
  • Dysmorphic features
  • Congenital anomalies
  • Neurological issues


​If you choose to print this information, it is valid only on date of print.

Laboratory Controlled Document LSM-929 v3

Last Modified: Tuesday, October 8, 2019 |
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