What is a Karyotype Test?
A Karyotype Test is a genetic analysis that examines the structure and number of your chromosomes.
Inside almost every cell in your body, your DNA is tightly bundled into structures called chromosomes. Most people have 46 chromosomes arranged in 23 pairs. A Karyotype test takes a sample of your cells, grows them in a lab, and photographs them under a microscope to create a "map" of your genetics.
This allows geneticists to see large-scale changes, such as missing or extra chromosomes, or large structural rearrangements, that smaller DNA tests might miss.
When is Karyotype Testing Recommended?
Karyotyping is a fundamental test used in several specific medical situations:
- Fertility & Recurrent Miscarriage: Couples with unexplained infertility or who have suffered repeated miscarriages are often tested. The goal is to find "balanced translocations" where pieces of chromosomes have swapped places. This may not affect the parent's health but can make conception difficult or lead to pregnancy loss per Genomics Education Programme.
- Prenatal Diagnosis: If a pregnancy is deemed high-risk (due to ultrasound anomalies, maternal age or high risk NIPT), doctors may use cells from amniocentesis or CVS to check the baby's chromosomes for conditions like Down syndrome.
- Child Development: Newborns or children with unexplained developmental delays, growth issues, or birth defects may be tested to diagnose chromosomal conditions like Turner Syndrome (missing X chromosome) or Klinefelter Syndrome.
- Family History: If there is a known history of chromosomal disorders in your family, this test can clarify your personal risk.
How does the process work?
Karyotyping requires living, growing cells. The most common method for adults and children is a simple blood test.
- Sample Collection: We arrange a convenient blood draw (5–10 mL for adults) at one of our partner clinics or via a home phlebotomy service.
- Lab Analysis: In the lab, your cells are cultured (grown) until they divide. They are then stained so the chromosomes become visible under a microscope.
- Examination: A specialist technician arranges your 46 chromosomes into pairs and checks for missing, extra, or rearranged chromosomes.
- Results & Support: You receive a full report. Because chromosomal results can be complex, a 30-minute session with a genetic counsellor is included with every test to explain the findings in plain English.
Timeline: Results typically take 4 weeks because the cells need time to grow in the lab.
- Need it faster? We offer an Express Service (results in 2–3 weeks).
What does the test detect?
A Karyotype looks for "big picture" genetic changes that affect the whole chromosome structure:
- Aneuploidy: Having the wrong number of chromosomes (e.g., Trisomy 21 / Down Syndrome).
- Translocations: When a piece of one chromosome breaks off and attaches to another.
- Inversions: When a segment of a chromosome breaks off, flips backward, and reattaches.
- Deletions/Duplications: Missing or extra large chunks of genetic material.
Note: For smaller genetic changes, a Microarray or Whole Exome Sequencing might be recommended instead.
Pricing & Packages
We believe in transparent, all-inclusive pricing with no hidden fees.
Single Karyotype | £365 | Standard testing for one individual. Includes pre- and post-test counselling. Results in 4 weeks (Single test).
Couple's Karyotype | £695 | Most Popular for Fertility. Testing for both partners. Includes joint counselling session. Results in 4 weeks (Couple's test).
Includes:
- Laboratory analysis at an accredited UK/EU lab.
- 30-minute online consultation with an expert genetic counsellor.
- Referral for follow-up testing (like FISH or Microarray) if abnormalities are found.
Why Choose Jeen?
At Jeen Health, we combine medical expertise with a actionable advanced genetic testing supportive, patient-focused approach.
- We specialise in fertility and pregnancy genetics.
- We arrange sample collection nationwide or at our partner, the Spital Clinic, for on-site testing.
- We don't just give you a report; we help you plan the next steps. If a result impacts your fertility or health, our counsellors are there to guide you.
