Back to Test Compendium

Chromosomal Analysis, Tissue - Saskatoon

Discipline

Genetics and Genomics

Overview

Description

Ordering recommendations

  • Umbilical cord specimens are to be accepted for  stillborn only with  family history of chromosome anomalies
  • Cell culture services can be provided for further biochemical or DNA test

Ordering requirements

  • Forms required - Genomics Lab Requisition (CGEN-113) obtained online from the Laboratory Services Manual or from the Cytogenetics Laboratory
  • Clearance required - DNA or biochemical testing must be referred through Medical Genetics (ph: 306-655-1692)

Alias

  • Cytogenetic analysis

  • Karyotype

Specimen Information

Specimen types accepted

  • Skin biopsy and fetal umbilical cord

Specimen collection container

Collection procedure

  • Specimens should be collected in sterile saline or media; specimens in formalin will be rejected
  • Specimen must be accompanied by a completed test requisition - CGEN-113
  • 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 umbilical cord

  • Skin biopsy punch (approximately 0.5 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).

Transport and stability

  • Specimens are to be stored  and delivered at room temperature; if storing overnight, keep refrigerated at 4°- 8°C 
  • Do not freeze specimen or expose to extreme heat.
  • Specimens in formalin will be rejected

Rejection criteria

Testing Information

Relevant clinical history

Patient history

  • Cultured cells for biochemical or DNA testing
  • Family history of chromosome anomaly

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 (ISCN)

Performance

Methodology

  • Fibroblast long-term culture and G-banding

Days/times performed

Availability
  • Specimens are received in the Cytogenetics Laboratory weekdays from 8:00 a.m. to 5:00 p.m.
  • There is a 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 Saskatchewan Health Authority is recommended for tracking purposes

Testing site
  • Genomics Laboratory
  • Room 5627, 5th Floor, 1955 Building Royal University Hospital, 103 Hospital Drive Saskatoon SK S7N 0W8
  • Ph: 306-655-1706
  • FAX: 306-655-6462

Maximum laboratory time

Result reporting

  • Approximately 42 days, dependent on indication, growth rate and workload

Sample is considered a culture failure when no growth is observed after 3 weeks.

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

Specimen retention time

  • Culture vessels: two weeks after reporting

Last Updated: September 15, 2025