Cytogenetics and Microarray

Our NATA accredited services include conventional cytogenetic karyotyping, fluorescence in situ hybridisation (FISH), microarray analysis, and chromosome instability studies.

What should be considered when choosing conventional karyotype or chromosomal microarray? 

See our guide to considerations when choosing conventional karyotype or chromosomal microarray.

Sample information and testing requirements

Please include the relevant clinical information and family history when requesting any type of testing to enable accurate interpretation and reporting of test results. Common indications for testing and billing information 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

 Billing
Rapid aneuploidy detection by QF-PCR  Neonatal samples (peripheral blood - EDTA)
  • Neonates with suspicion of common trisomy
  Requests accepted from tertiary care  
 Prenatal samples (amniotic fluid and chorionic villus samples)
  • Ultrasound abnormalities
  • High risk antenatal screen (including NIPT)
  • Advanced maternal age
  Requests accepted from tertiary care  
Karyotyping

Postnatal samples (peripheral blood - NaHep)
  • Infertility and recurrent miscarriage
  • Suspicion of sex chromosome aneuploidy
  • Neonates with suspicion of common trisomy or with ambiguous genitalia
 Covered by Medicare
(Item 73289)

Prenatal samples (amniotic fluid and chorionic villus samples)
  • Ultrasound abnormalities
  • High risk antenatal screen
  • Advanced maternal age
 Covered by Medicare
(Item 73287)
 
Microarray

 Postnatal samples (peripheral blood - EDTA)  
One or more of the following:
  • Intellectual impairment
  • Developmental delay
  • Autism
  • Two or more congenital anomalies
 Covered by Medicare if stated Indications for Testing are met
(Item 73292)
Prenatal samples (amniotic fluid and chorionic villus samples)
  • One or more major structural fetal abnormalities
  • Nuchal translucency >3.5mm
 Covered by Medicare if stated Indications for Testing are met (Item 73388)
Products of conception (fresh fetal tissues and placental samples)
  • Recurrent pregnancy loss
  • Fetal abnormalities
  Covered by Medicare
(Item 73287)

Please note, clinician and patient resources on chromosomal microarray are available from here.


 FISH

FFPE and imprints from tumour tissue

Lymphoma and other solid tumour studies

 Please refer to Medicare Benefits Schedule for covered tests 
FFPE mounted on slides from products of conception Suspected hydatidiform mole  Covered by Medicare
(Item 73389)

Postnatal and prenatal samples

Locus-specific cytogenetic abnormalities

  

Please complete a FISH Probe Request Form and submit with blood samples or via fax on (08) 6383 4280.
Chromosomal instability studies  Postnatal samples (peripheral blood - NaHep) MMC-induced chromosomal instability is relevant mostly to Fanconi anaemia  
   Please note, due to the technical requirements of the laboratory procedure, it is optimal to ensure specimen arrival in the laboratory on a Monday or Tuesday.
 

 

 

 

Last Updated: 11/07/2023