Chromosomal Breakage (Ataxia telangiectasia, Fanconi’s anaemia, Xeroderma pigmentosum & Bloom’s Syndromes)


Ataxia telangiectasia, Fanconi’s anaemia, and Bloom’s syndrome are disorders inherited in an autosomal recessive pattern in which spontaneous chromosomal breaks, gaps, and rearrangements are seen in mitogen-stimulated T cells. Although each syndrome can be characterised by distinct clinical and laboratory findings, all have been associated with growth failure, microcephaly, neurological abnormalities, immunodeficiency, failure to develop secondary sexual characteristics, and an increased incidence of malignancy.The immunological defects in each of these syndromes are variable and may progress with age. In ataxiatelangiectasia, serum IgA and IgE are usually absent, lymphocyte numbers are decreased, and proliferative responses to mitogens are decreased to a mean of 60% of normal. Fanconi’s anaemia may have mildly decreased concentrations of serum immunoglobulins, but proliferative responses to PHA ( phytohemaglutinin ) are usually normal.


This test is useful in the diagnosis of Ataxia telangiectasia, Fanconi’s anaemia, and Bloom’s syndrome. The degree of chromosomal breakage in each of the three syndromes is variable and is influenced by culture and assay techniques and the origin of the cells examined. However, there are specific cytogenetic findings typical for each syndrome.

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 haemolysed and clotted specimens. Do Not Refrigerate or Freeze.

Normal Range

By Report

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