The investigation of microdeletion and microduplication syndromes is now performed by microarray analysis. Microarray provides a superior investigation than FISH testing as it detect a wider range of genetic changes that may cause each syndrome. If an urgent investigation is required, FISH can be performed in 24-48 hours (see Notes).
Private and public patients: $144.85 (no bulk bill/Medicare rebate).
If FISH testing is required:
Routine 7-10 days
Urgent 24 - 48 hours
Adults/Children: 5 ml
Infants 0.5 - 1 ml
Saliva (please contact laboratory for saliva kits)
For FISH testing:
1-5 ml Heparinised blood
A microarray test is performed for all suspected microdeletion/ microduplication syndromes. The referring doctor MUST contact the Lab if an urgent FISH test is required.