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

David Francis

Phone (03) 8341 6258 (Lab)

Phone (03) 8341 6282 (direct)

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.