Microdeletion/Microduplication FISH
Overview
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).
Category
Cost
Private and public patients: $144.85 (no bulk bill/Medicare rebate).
Reporting time
If FISH testing is required:
Routine 7-10 days
Urgent 24 - 48 hours
Contacts
Phone: 1300 11 8247
Email: [email protected]
Specimen Requirements
For Microarray:
EDTA blood:
Adults/Children: 5 ml
Infants 0.5 - 1 ml
Saliva (please contact laboratory for saliva kits)
For FISH testing:
1-5 ml Heparinised blood
Notes
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.