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Laboratory Test Reference Guide

Laboratory Information

Test Name

Karyotype peripheral blood

Synonyms

Chromosomes
GTL banded chromosome analysis

External Price (excl. GST)

Price

$611.62

Price Comment

Includes culture processing charge.

Specimen Collection

Specimen Collection and Transport Protocols

4 ml Heparin (Dark green) Whole blood sterile Do not centrifuge or freeze. 

Blood Samples are preferred for CLL patients with peripheral lymphocytosis. 

For other disorders, peripheral blood is suitable if there are >10% blasts in circulation. 

Sample Delivery to Lab

Ambient on day of collection. Refrigerate overnight or weekend then send ambient

Test Information

Department

Cytogenetics

Laboratory Turnaround Time

Urgent < 5 days, Non-urgent 18 days

Method

Cell culture, arrest in metaphase, microscopic analysis

Diagnostic Use Or Instructions

Detection of microscopically visible chromosome rearrangements (>5-10Mb). 

Balanced chromosome rearrangements such as translocations, inversions in couples with fertility issues.

Sex chromosome Syndromes e.g. Turner (45,X), Klinefelter  (47,XXY), Triple X. (47,XXX)

Autosomal trisomies, eg. Trisomy 13,18 or 21. 

Confirmation of abnormal rapid FISH screen 

Family follow-up of known chromosome rearrangements previously detected by karyotyping

Additional Information

Chromosome  microarray (Molecular karyotyping) is recommended as the ‘first tier’ test for children with congenital abnormalities, intellectual problems, developmental delay and/or dysmorphism.
  

Minimum Volume

Adult 1 ml Heparin, Paediatric 0.5 ml Heparin 

Electronic Information

Registration Code

Exam C_KARY

HL7Mapping Code

$C_KARY