Cytogenetic Studies (Karyotype)
Examines the chromosomes, for developmental disorders, infertility and recurrent miscarriage.
Also known as: karyotype, chromosome analysis, cytogenetics
Price on request
We can collect this sample at your home, free of charge. Book a home visit.
- Turnaround
- 2–3 weeks
- Preparation
- No fasting needed. Eat and drink normally.
- Sample
- Blood sample
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About this test
Cells are cultured and their chromosomes photographed and arranged, which reveals missing, extra or rearranged material. It is requested for dysmorphic features, unexplained developmental delay, short stature, ambiguous genitalia, primary or secondary amenorrhoea, recurrent miscarriage and infertility, and in leukaemia to identify defining rearrangements.
What it measures
- Chromosome number and structure
- Translocations, deletions and duplications
- Chromosome breakage studies where Fanconi anaemia is suspected
A note on results. A single test is one part of a clinical picture, not a diagnosis. Discuss your report with a qualified doctor, who will read it alongside your history and examination.
Related to
- Fertility
- Children's health
- Cancer screening
Often ordered with this
17-OH Progesterone
The screening test for congenital adrenal hyperplasia.
- 3–5 working days
- No fasting
- Home collection
AFP (Alpha-Fetoprotein)
A liver and germ-cell tumour marker, also used in antenatal screening.
- 24–48 hours
- No fasting
- Home collection
Anti-Sperm Antibody
An immune cause of infertility, in either partner.
- 7–10 working days
- No fasting
- Home collection