PatientsVisitorsLocations & ServicesAbout the RegionJoin Our TeamPhysicians
Find:  Locations | Services
Pathology and Laboratory Medicine HomeTest and Services CatalogueTransfusion Medicine Product CataloguePolicy and ProcedureJob AidsSpecimen Collection and TransportRequisitionsAntibiogramsGenetic Testing and Molecular GeneticsMicrobiology EssentialsTransfusion EssentialsReference RangesLaboratory SuppliesAcute Care SCM GuidelinesContact InformationPhysician Access to Patient ResultsNew Clinic or Provider Information Changes
Pathology and Laboratory Medicine
Test Catalogue

​Chromosome Analysis - Blood


​Ordering Recommendation

  • ​ ​Preferred collection times are Monday , Tuesday and Friday

​ ​Specimen Requirements

  • ​Peripheral blood/ whole blood
​Collection Procedure
  • ​Invert several times to mix
  • Other anticoagulants are not recommended since they are harmful to the viability of the cells
  • 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: 5-7 ml
  • Minimum Volume: 1 ml for neonates; 2 ml for all other patients
    (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: 1-3 ml of peripheral blood or cord blood
  • ​Specimens are to be kept and delivered at room temperature
  • 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.
  • Cultures are routinely initiated Mondays, Tuesdays and Fridays. Neonate cultures can be initiated on other days.
  • 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).
  • Specimens to be received the day before a long weekend or during the Christmas/ New Year or Easter Holidays must be approved by the Laboratory before sending
Testing Site​Cytogenetics Laboratory
Ellis Hall Ground Floor, Room 35
Royal University Hospital, 103 Hospital Drive
Saskatoon SK S7N 0W8
Phone: 306-655-1706
FAX: 306-655-6462
Results Reporting​
  • ​Dependent on specimen type, indication 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
  • ​PHA-stimulated lymphocyte culture and G-banding
​Clinical Interpretation
  • ​Diagnosis of constitutional chromosome anomalies including numerical and structural
  • Anomaly designation follows the most recent edition of the International System for Human Cytogenetics Nomenclature
​Specimen Retention
  • ​Original peripheral blood specimen: two weeks
  • Cell suspension: three months after reporting
Alternate Test Names​
  • Cytogenetic analysis
  • Karyotype
​Additional Comments
  • ​The test is not appropriate for acquired hematological disorders (see Chromosome analysis – Bone Marrow)
  • Molecular genetics (DNA) testing is done through referral to Medical Genetics
SHR LIS Test Code​
  • ​PB (for Laboratory Use Only)

Testing Ordering Requirements​ ​

​Forms Required

Patient History​ ​

​Relevant Clinical History
  • ​Clinical features of aneuploidy syndrome, i.e. Down, Patau, Edwards, Turner, Klinefelter
  • Congenital anomalies
  • Developmental delay/ intellectual disability
  • Dysmorphic features
  • Failure to thrive
  • Short stature/ excessive growth
  • Infertility
  • Multiple miscarriages (3 or more)
  • Ambiguous genitalia, amenorrhea
  • Family history of a chromosome anomaly

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

Laboratory Controlled Document LSM-159 v3

Last Modified: Monday, December 11, 2017 |
Questions or feedback about this page?