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Karyotype / Chromosome Analysis

The karyotype test analyzes the number and structure of chromosomes in a person’s cells. This test helps detect genetic abnormalities that may be linked to developmental disorders, infertility, recurrent pregnancy loss, or certain cancers. By examining the chromosome arrangement, healthcare providers can identify conditions such as Down syndrome, Turner syndrome, or structural chromosomal rearrangements. Why it is important to check this marker: Chromosomal abnormalities can lead to genetic disorders, reproductive issues, or increased cancer risk. Identifying these abnormalities early helps in diagnosis, treatment planning, and genetic counseling for affected individuals and their families. Indications for testing: - Infertility and recurrent miscarriages: To detect chromosomal issues that may affect reproductive health. - Congenital disorders: In newborns or children with developmental delays, intellectual disabilities, or birth defects. - Family history of genetic conditions: To assess the risk of inherited chromosomal disorders. - Hematological cancers: To identify chromosomal changes in leukemia or lymphoma. - Ambiguous genitalia or suspected sex chromosome disorders: To diagnose Turner syndrome, Klinefelter syndrome, or other sex chromosome abnormalities. What can be detected: - Aneuploidy: Extra or missing chromosomes, such as in Down syndrome (Trisomy 21), Turner syndrome (45,X), or Klinefelter syndrome (47,XXY). - Structural abnormalities: Deletions, duplications, inversions, or translocations that may affect health or fertility. - Mosaicism: The presence of two or more different cell lines with distinct chromosomal compositions. - Chromosomal rearrangements: Balanced or unbalanced translocations that may be inherited or occur spontaneously. The karyotype test is a valuable tool in genetics, reproductive medicine, and oncology, helping diagnose chromosomal disorders and guide treatment or genetic counseling decisions.

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