CHROMOSOME BREAKAGE SYNDROMES / INSTABILITY DISORDERS

Background

The chromosome breakage disorders are a diverse set of rare genetic conditions (usually autosomal recessive) often characterised by a predisposition to malignancy and associated with chromosome breakage or fragility. The genetic defect causes genomic instability or an inability to repair DNA damage.
 

Breakage/Instability Testing at WRGL

WRGL offers specialist testing for the following disorders: Bloom's syndrome (BS OMIM 210900), Fanconi Anaemia (FA OMIM 227650), Ataxia Telangiectasia (AT OMIM 208900) , Immunodeficiency, Centromeric Instability, Facial Anomalies syndrome (ICF) and Nijmegen Breakage syndrome (NBS OMIM 251260). We are also able to offer testing for cohensinopathy disorders, such as Roberts syndrome (RBS) and Mosaic Variegated Aneuploidy syndrome (MVA).
Please contact the laboratory prior to testing as there are often particular sample and organisational requirements for these tests.

 

Cost, Sample Requirements & Turnaround Times

* No direct charge for the Central Region DHBs covered by the Crown Funding Agreement

** Please contact the laboratory if chromosome breakage/instability testing is required