Overview

In the prenatal setting, microarray and conventional chromosome analysis is used for the investigation of fetal anomalies detected on ultrasound, high risk screening results, miscarriage and a familiy history of genetic conditions. Testing can be performed on CVS and amniotic fluid. For pregnancy loss, chromosome microarray or molecular karyotyping is used to investigate possible chromosomal causes of miscarriage. Microarray analysis has largely replaced conventional chromosome analysis, however chromosome analaysis may still be used for the investigation of familial chromosome rearrangements.

Category

Cost

Private patients: $527.00 (Medicare rebate $335.40) + FISH $175 (non rebatable)

Non-Medicare patients: $527.00 + FISH $175 (non rebatable)

Reporting time

Prenatal diagnosis 8-12 days

POC/Pregnancy loss 3-4 weeks

Contacts

Fiona Norris

(03) 8341 6258 (Admin)

(03) 8341 6358 (Direct)

David Francis

(03) 8341 6282 (Direct)

Specimen Requirements

Amniotic fluid: 15-20 ml

CVS: 10-20 mg

POC/pregnancy loss: fresh tissue in sterile saline/transport media

Notes

Contact the Lab for collection vessels and transport requirements.

Rapid aneuploidy FISH testing can be performed on CVS and amniocentesis samples, if requested. Results are usually available within one business day of receipt.

Advanced notification is required for prenatal DNA testing for specific disorders.
Phone: 03 8341 6258, Fax: 8341 6366.

An interphase FISH analysis must be performed on CVS or amniocentesis samples when a microarray analysis is performed.