The Cytogenetics laboratory offers comprehensive testing for both constitutional and acquired chromosomal abnormalities. Our NATA accredited services include conventional cytogenetic karyotyping, fluorescence in situ hybridisation (FISH), microarray analysis, and chromosome instability syndromes studies.
Sample Information and Testing Requirements
Please include the reason for referral, clinical information and family history when requesting any type of testing to enable accurate interpretation and reporting of all test results. Key indications and requirements for some tests are provided below.
Please refer to the
Online Test Directory for the full range of tests provided by our laboratory and information on sample requirements.
| Karyotyping |
postnatal samples
(peripheral blood) |
Infertility and recurrent miscarriage
Neonates with dysmorphic features |
|---|
prenatal samples
(amniotic fluid and chorionic villus samples) |
Ultrasound abnormalities
High risk antenatal screen
Advanced maternal age |
products of conception
(fetal tissues and
placental samples) |
Pregnancy loss following three or more previous miscarriages
Abnormalities on post mortem examination |
Microarray
Illumina HumanCytoSNP-12
and CytoSNP850K platform |
postnatal samples
(peripheral blood) |
One or more of the following:
intellectual disability, mental retardation, developmental delay, autism, multiple congenital anomalies |
|---|
Please complete a copy of the the  Microarray Patient Clinical Information Form and submit with blood samples or via fax (08 6383 4280) |
| FISH |
FFPE and imprints
from tumour tissue |
Lymphoma and other solid tumour studies |
|---|
postnatal and
prenatal samples |
Locus-specific cytogenetic abnormalities |