Chromosome Breakage Studies

Fanconi anaemia:
The test detects defective DNA repair in response to alkylating agents by screening for increased spontaneous and mutagen induced chromosome breakage. The primary mutagen used is Diepoxybutane (DEB) which we find gives the best discrimination between affected and unaffected individuals but Mitomycin C (MMC) testing is available on request.
Radiosensitivity syndromes:
Ataxia-telangiectasia and Nijmegen breakage syndrome patients are defective for repair of ionising radiation induced damage. Raised spontaneous and gamma ray induced chromosome breakage is screened for and G-banded metaphase preparations are examined for clonal chromosome rearrangements, particularly involving the immunoglobulin genes on chromosomes 7 and 14.
Clinical details: 
Our genetics laboratory is a supra-regional and international reference laboratory for chromosome instability testing by cytogenetic techniques: our experience encompasses the full range of classical and atypical cases reported in the literature. Specific testing strategies for the different disorders are employed to look for raised spontaneous and specific mutagen-induced damage and/or chromosome rearrangements or other anomalous behaviour. We offer both pre- and postnatal diagnosis on amniotic fluid, chorionic villi, blood and solid tissue samples.
Synonyms or keywords: 
Chromosome breakage, chromosome instability, Fanconi anaemia, Diepoxybutane, DEB test, Mitomycin C, MMC, Radiosensitivity syndromes, Ataxia-telangiectasia, Nijmegen breakage syndrome, Bloom syndrome, Roberts syndrome, SC Phocomelia, Premature chromosome condensation, MCPH1, ICF syndrome, Werner syndrome, variegated aneuploidy syndrome
Sample type and Volume required: 
Peripheral blood in a lithium heparin bottle, 5ml (2ml from babies). Amniotic fluid and solid tissue specimens in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory). Cultured fibroblast cells are also accpeted
Call in advance: 
Please notify the laboratory before sending samples
Turnaround time: 
Blood samples -10 days, solid tissue - 28 days, prenatal samples - 14/28 days
Storage and transport: 
Samples should arrive within 72 hours (preferably24 hours) of sampling. For prenatal diagnosis please discuss with the laboratory before sending any samples.
On application
Time limit for extra tests: 
Do not spin down or freeze samples before sending.
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015