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 - please contact us to arrange testing.

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 hrs

Contacts

P: 1300 118 247
E: [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.