Chromosomal Karyotyping, Constitutional Studies, Peripheral Blood


Chromosomal abnormalities often cause specific and complex phenotypes resulting from an imbalance in the normal dosage of genes located in a particular chromosomal segment. Many multiple malformation syndromes are caused by deletion (or duplication) of genomic regions. Cytogenetic techniques allow for the unambiguous identification of each human chromosome and the detection of aneuploidy and many large structural rearrangements, including translocations, deletions, and duplications.


The test is used in the diagnosis and identification of genetic diseases such as mental and physical retardation, malformation, chromosomal trisomies (13, 18 and 21 for example), certain leukaemia and sexual development problems. Fluorescent In Situ Hybridisation can be performed simultaneously for rapid results to confirm or rule out trisomies, the number of X / Y chromosomes and chromosome translocations.

Sample Type, Quantity & Conditions

7 ml Heparin Whole Blood Room Temperature

Special Precautions

Must be sterile. Maintain sample at room temperature. Clinical details required. Avoid haemolysedand clotted specimens. Do Not Refrigerate or Freeze

Normal Range

By Report

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