Peripheral blood karyotype

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Karyotype of peripheral blood lymphocytes can identify numerical and structural chromosomal abnormalities of all chromosomes. Chromosomal abnormalities are the cause of a wide range of genetic diseases.

Clinical indications for peripheral blood karyotyping include:

  • Multiple congenital abnormalities
  • Dysmorphic features
  • Ambiguous external genitalia
  • Developmental delay
  • Mental retardation with or without autistic features
  • Family history of chromosomal rearrangements
  • Chromosomal breakage Syndromes (e.g. Fanconi Anemia)

It is also recommended in cases of infertility of unknown etiology, in males with sperm abnormalities (azoospermia or severe oligospermia), in females with primary or secondary amenorrhea or ovarian insufficiency and in couples with two or more miscarriages.


Culture of peripheral blood lymphocytes and chromosome analysis using high-resolution G-banding. Subsequent detailed microscopic analysis and chromosome pairing allows the detection of numerical and structural chromosomal abnormalities. Structural abnormalities may involve loss, duplication or reciprocal translocation of chromosomal segments between two chromosomes.

Sample type: Peripheral blood in dry heparin tubes (vacutainer with lithium heparin – green lid)

Turnaround time: 2-3 weeks

The department of Cytogenetics participates successfully to the external quality scheme organised by GenQA for Peripheral Blood Karyotype analysis.