Cytogenetics and Microarray

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.
Testing Method​ Sample Type​ Indication for Testing​
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
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 Diagnostic-Genomics_Microarray-Patient-Clinical-Information-Form-Electronic.pdfMicroarray 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
Please complete a copy of the Diagnostic-Genomics_FISH-Probe-Request-Form.pdfFISH Probe Request Form and submit with tumour samples or via fax (08 6383 4280)
Page last updated: 14 Aug 2020