Karyotyping - Peripheral blood

A blood karyotype is a picture of all your chromosomes. It checks whether you have the usual number of chromosomes and whether any large pieces are missing, extra or rearranged.

What the test looks for

Chromosomes carry your genes. Most people have 46 chromosomes in 23 pairs. For a karyotype, the lab grows white blood cells from your sample, stops them as they divide, and examines the chromosomes under a microscope. This can show:

• An extra or missing chromosome, such as in Down syndrome, Turner syndrome or Klinefelter syndrome
• Balanced rearrangements (translocations or inversions), which often cause no symptoms but can affect fertility or pregnancy
• Large deletions or duplications

A karyotype does not detect very small changes or changes in single genes. Other tests, such as microarray or gene sequencing, are used for those.

Who might consider it

• Couples with recurrent miscarriage, where both partners are often tested
• Men or women being investigated for infertility
• People with features of a chromosome condition, at their doctor’s request
• Relatives of someone with a known chromosome rearrangement

Before you book

The test uses blood collected in two green-top (heparin) tubes, which must reach the lab quickly so the cells stay alive. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. Results are usually ready in 10–12 days.

Understanding your results

The report describes your karyotype, for example 46,XX or 46,XY when no change is seen. If a change is found, a doctor or genetic counsellor will explain what it means for your health, fertility or family.