Table 3

 Advantages and disadvantages of the multiple techniques used to diagnose segmental aneuploidies

Method
QPCRPSQFISHMicrosatellitesSouthern
*A preliminary result can be given after two days.
†Price for QF-PCR.
‡€45/assay includes both parents.
§See, for example, the mapping of breakpoints of atypical deletion patient detailed in this report.
¶By three colour FISH (see, for example, Bayes et al, 200317).
**Possibility of working with non-radioactive digoxygenin, but with a diminished sensitivity.
FISH, fluorescence in situ hybridisation; PSQ, paralogous sequence quantification; QPCR, quantitative real time polymerase chain reaction; SNP, single nucleotide polymorphism.
Speed (days)115 (2)*16
Cost per assay (€)30108015/30/45†‡80
AdvantagesGreat adaptability to uncommon rearrangement§Possibility of diagnosing inversion¶Possibility of diagnosing inversion
DisadvantagesInversion impossible to diagnoseRelies on paralogous sequences; impossible to diagnose inversionLabour intensiveRelative informativeness of SNPs; discovery of non-paternity; impossible to diagnose inversionRequires working with radioactivity**; labour intensive