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.
|Genes||Whole genome – high resolution|
|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|
(Downloadable documents are supplied within each kit dispatched)
Physician Test Request Form