Molecular Karyotype (SNP Microarray)

Chromosomal microarray (CMA or Molecular karyotype) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes at a much higher resolution than conventional chromosome analysis (karyotype). The chromosomal microarray platform offered by Genomic Diagnostics can detect gains (duplication) and loss (deletion) of segments of DNA and regions of homozygosity. This test will provide information about the genes involved in regions of copy number alteration. The information provided will assist in patient management.

This is the preferred genetic test for the investigation of babies born with congenital anomalies, dysmorphic features or hypotonia. It is the gold standard genetic test for the diagnosis of micro-deletion and micro-duplication syndromes. It is applied for the investigation of developmental delay, neurobehavioral disorders, autism spectrum disorders, mental retardation, dysmorphic features and congenital anomalies. In the prenatal setting molecular karyotyping is recommended in high risk pregnancies with anomalies detected by ultrasound screening of the fetus.


Test  Molecular karyotyping
Genes  Whole genome – high resolution
Method  SNP Microarray
Notes  Clinical notes indicating the condition that is being investigated is required
Specimen  Neonate: 1-2ml EDTA
 Paediatric: 5-7ml EDTA
 Adults: 5-7ml EDTA
 Prenatal: By arrangement with the laboratory
Turn Around Time  28 days
Shipping TBA
Required Documents
(Downloadable documents are supplied within each kit dispatched)

 Physician Test Request Form

Price  Medicare rebate