Chromosome Breakage Syndromes/Instability disorders

Diagnostic Use

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.

Samples are referred to Wellington Regional Genetics Service 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). Testing is also offered for cohensinopathy disorders, such as Roberts syndrome (RBS) and Mosaic Variegated Aneuploidy syndrome (MVA).


Genetics - Cytogenetics

Delphic Registration Code



Fanconis syndrome
Breakage syndrome
Bloom's syndrome
Ataxia Telangiectasia

Turnaround Time

10 days

Test Code