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Karyotype / Chromosome Analysis

Karyotype Test Overview
A karyotype test examines the number and structure of chromosomes in a person’s cells. It plays a crucial role in detecting genetic abnormalities that may be associated with developmental disorders, infertility, recurrent pregnancy loss, or certain cancers. By analysing the arrangement of chromosomes, healthcare professionals can identify conditions such as Down syndrome, Turner syndrome, and structural chromosomal rearrangements.

Why This Test Matters
Chromosomal abnormalities can contribute to genetic conditions, reproductive challenges, and elevated cancer risk. Early detection supports accurate diagnosis, informed treatment planning, and appropriate genetic counselling for individuals and their families.

When Karyotype Testing Is Recommended

Infertility or recurrent miscarriages: To identify chromosomal factors affecting reproductive outcomes.

Congenital disorders: In infants or children with developmental delays, intellectual disabilities, or birth defects.

Family history of genetic conditions: To evaluate the likelihood of inherited chromosomal abnormalities.

Blood cancers: To detect chromosomal changes linked to conditions like leukaemia or lymphoma.

Ambiguous genitalia or suspected sex chromosome conditions: To diagnose disorders such as Turner or Klinefelter syndrome.

What the Test Can Reveal

Aneuploidy: Abnormal chromosome numbers, e.g., Trisomy 21 (Down syndrome), 45,X (Turner syndrome), or 47,XXY (Klinefelter syndrome).

Structural abnormalities: Deletions, duplications, inversions, or translocations that may impact health or fertility.

Mosaicism: The presence of two or more genetically distinct cell lines.

Chromosomal rearrangements: Balanced or unbalanced translocations, which may be inherited or occur spontaneously.

The karyotype test is an essential diagnostic tool across genetics, reproductive health, and oncology—supporting better patient care and personalized treatment pathways.

 

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