Karyotype peripheral blood
GTL banded chromosome analysis
Includes culture processing charge.
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.
Ambient on day of collection. Refrigerate overnight or weekend then send ambient
Urgent < 5 days, Non-urgent 18 days
Cell culture, arrest in metaphase, microscopic analysis
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
Chromosome microarray (Molecular karyotyping) is recommended as the ‘first tier’ test for children with congenital abnormalities, intellectual problems, developmental delay and/or dysmorphism.
Adult 1 ml Heparin, Paediatric 0.5 ml Heparin