Karyotype Chromosome Analysis

A karyotype test is a diagnostic blood test that analyses all 23 pairs of your chromosomes. It produces a detailed visual map of your chromosomes, arranged by size and structure, allowing specialists to identify any abnormalities in number or arrangement.

Karyotype testing can detect conditions such as balanced translocations, inversions, deletions, and numerical abnormalities like Turner syndrome or Klinefelter syndrome. It is one of the most established and reliable genetic tests available.

A karyotype test requires a simple blood sample, which can be taken at our London clinic or via a posted blood collection kit anywhere in the UK. The sample is sent to an accredited laboratory where your chromosomes are cultured, stained, and analysed under a microscope.

There is no special preparation needed before the test. You do not need to fast, and the blood draw itself takes only a few minutes. It is a safe, routine procedure with no risk to your health.

A karyotype test can detect a wide range of chromosomal abnormalities. These include numerical abnormalities such as trisomies (e.g. Down's syndrome), monosomies (e.g. Turner syndrome), and additional sex chromosomes (e.g. Klinefelter syndrome).

It also detects structural abnormalities such as balanced and unbalanced translocations, inversions, deletions, and duplications. Balanced translocations are a particularly common finding in couples with recurrent miscarriage, as they can lead to chromosomally abnormal pregnancies despite the carrier being clinically healthy.

A balanced translocation occurs when a segment of one chromosome breaks off and attaches to another chromosome. Because no genetic material is gained or lost, the carrier is usually completely healthy and unaware of the rearrangement.

However, when a carrier of a balanced translocation tries to conceive, their eggs or sperm may end up with an unbalanced amount of chromosomal material. This can lead to recurrent miscarriage, failed implantation, or in some cases a pregnancy affected by a chromosomal condition. Identifying a balanced translocation through karyotype testing is a crucial step in understanding and managing recurrent pregnancy loss.

Karyotype testing is sometimes available on the NHS, but access can vary by region and waiting times can be lengthy. Many NHS pathways require a referral from a specialist and may only be offered after a set number of miscarriages or failed IVF cycles.

Through Jeen Health, you can access karyotype testing privately without a GP referral, with expert genetic counselling included and results in under 3 weeks. Testing is available at our London clinic or via a posted kit anywhere in the UK, making it a convenient option if you prefer not to wait.

Karyotype testing is most commonly recommended for individuals or couples experiencing recurrent miscarriage, unexplained infertility, or repeated failed IVF cycles. It helps identify whether a chromosomal abnormality in one or both partners may be contributing to these difficulties.

It may also be recommended if there is a known family history of chromosomal conditions, or as part of a broader genetic investigation before fertility treatment. Your GP, fertility consultant, or genetic counsellor can advise whether karyotype testing is appropriate for you.

Karyotype results typically take around 2 to 3 weeks. This is because the laboratory needs to culture your cells to a stage where the chromosomes can be clearly visualised and analysed, which is a more involved process than many standard blood tests.
Once your results are ready, they will be reviewed by a specialist and shared with you alongside a genetic counselling session. We will explain your results clearly and discuss any next steps.

In many cases, yes. When karyotype testing is recommended for recurrent miscarriage or failed IVF, it is standard practice to test both partners. A chromosomal rearrangement in either partner can affect pregnancy outcomes, so testing only one may miss the cause.

Couple testing also ensures that your fertility team has the full picture when planning treatment. If a translocation or other abnormality is found in one partner, options such as PGT-SR (preimplantation genetic testing for structural rearrangements) during IVF can significantly improve the chances of a healthy pregnancy.

If your result shows a chromosomal abnormality, our genetic counsellor will explain the finding in detail, what it means for your health, and how it may affect your fertility or future pregnancies. Not all abnormal results have the same clinical significance, so expert interpretation is important.

Depending on the finding, you may be offered further testing, referred for specialist fertility treatment, or given options such as PGT (preimplantation genetic testing) during IVF. We will guide you through every step and ensure you understand your choices.

Karyotype testing through Jeen Health is competitively priced, with transparent fees and no hidden costs. We currently charge £290 for karyotype testing anywhere in the UK, which includes your posted blood collection kit, laboratory analysis, and results report.

A genetic counselling session to discuss your results is included at no extra charge for abnormal results. If you prefer to have your blood taken professionally, you can visit any one of our partner clinics across the UK for £40, or arrange for a nurse to take your sample at home for £65. If you'd rather arrange your own blood draw, there is no additional cost.