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Pathology and Laboratory Medicine
Test Catalogue

​Chromosome Analysis - Skin


​Ordering Recommendation

  • ​​Fetal specimens are to be accepted only if they follow the requirements of three fetal losses in the mother or observation of an anomaly in the fetus
  • Cell culture services can be provided for further biochemical or DNA test

​ ​Specimen Requirements

  • ​Product of Conception, Fetal Cord, Fetal skin, Skin Biopsy
​Collection Procedure
  • ​Specimens should be collected in sterile saline
  • Specimen must be accompanied by a completed test requisition (CGEN-109)
  • Multiple specimens from the same patient must be individually labelled and include a requisition for each
  • Failure to include relevant patient information may result in test results being delayed or discontinued
​Required Volume

​Optimal Specimens:

  • Approximately 2.5 cm of cord from placental end
  • Approximately 0.5 cm x 0.5 cm of fetal skin
  • Product of conception with fetal tissue seen
  • Skin biopsy punch (approximately 0.5 cm x 0.5 cm)
  • Minimum Volume: All samples are accepted regardless of volume
    (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.)
  • ​Specimens are to be kept and delivered at room temperature; if storing overnight, keep refrigerated at 4°- 8°C
  • Do not freeze specimen or expose to extreme heat
Grounds for Rejection​

Testing Information​ ​

  • ​Specimens are received in the Cytogenetics Laboratory weekdays from 8:00 a.m. to 5:00 p.m.
  • There is a Cytogenetics technologist on call Saturday, Sunday and statutory holidays from 8:30 a.m. to 5:00 p.m. for urgent specimens only. This person can be reached through Royal University Hospital Switchboard (655-1000).
  • Booking of specimens from outside the Saskatoon Health region is recommended for tracking purposes
Testing Site​Cytogenetics Laboratory
Room 5627, 5th Floor, 1955 Building
Royal University Hospital, 103 Hospital Drive
Saskatoon SK S7N 0W8
Phone: 306-655-1706
FAX: 306-655-6462
Results Reporting​
  • ​Approximately 42 days, dependent on indication, growth rate and workload
​Reflex Testing
  • ​Parental chromosome analysis may be indicated to clarify a chromosome rearrangement and determine recurrence risk
  • The fluorescence in situ hybridization (FISH) methodology may be used to further define a rearrangement
  • ​Fibroblast long-term culture and G-banding
​Clinical Interpretation
  • ​Diagnosis of constitutional chromosome anomalies including numerical and structural anomalies
  • Anomaly designation follows the most recent edition of the International System for Human Cytogenetic Nomenclature
​Specimen Retention
  • ​Culture vessels: two weeks after reporting
Alternate Test Names​
  • Cytogenetic analysis
  • Karyotype

Testing Ordering Requirements​ ​

​Forms Required
  • Cytogenetics Requisition (CGEN-109) obtained online from the Laboratory Services Manual or from the Cytogenetics Laboratory
​Clearance Required
  • ​DNA or biochemical testing must be referred through Medical Genetics (phone: 655-1692)

Patient History​ ​

​Relevant Clinical History
  • ​Fetal anomaly/ malformation
  • Recurrent Miscarriages (3 or more)
  • Cultured cells for biochemical or DNA testing

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

Laboratory Controlled Document LSM-161 v3

Last Modified: Monday, March 16, 2020 |
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