Chromosome Breakage Disorders
Overview
Chromosomal breakage syndromes are a group of genetic disorders that are characterised by a defect in DNA repair mechanisms or genomic instability, and patients with these disorders show increased predisposition to cancer in addition to distinct clinical presentations. VCGS offers testing for Ataxia talengiectasia and Bloom syndrome.
Category
Cost
Private patients: $497.00 (Medicare rebate $341.45)
Non-private patients: $341.45 (bulk billed patients with Medicare)
Non-Medicare patients: $497.00.
Reporting time
Routine analysis: 2-3 weeks
Urgent analysis: 5-7 days
Contacts
David Francis
Phone (03) 8341 6258 (Lab)
Phone (03) 8341 6282 (direct)
Specimen Requirements
Lithium Heparin Blood (no gel): Adults/ Children: 5 ml
Infants: 1-2 ml
Neonates: 0.5-1 ml
Notes
Please contact Lab before collection to organise the most appropriate time to perform test.