MICROARRAY DIAGNOSTICS

Array CGH (comparative genomic hybridisation) is a molecular genetic method for detecting small losses and gains of chromosomal material that are below the resolution limit of conventional chromosome analysis (~5 Mb). This technology offers a resolution of up to 30 kb and can be used, among other applications, for postnatal clarification of syndromic abnormalities.  

Request Test

  • Sample material: EDTA whole blood
  • Test method: Array CGH
  • Turnaround time: from 2 weeks
  • Required documents:

Detailed information on sample submission can be found here.

INDICATION

  • Children with developmental delay or intellectual disability: Array CGH is particularly helpful in identifying submicroscopic deletions or duplications that may be present in children with unexplained developmental delay or intellectual disability.
  • Newborns with congenital malformations: In newborns with multiple or complex congenital malformations, array CGH can support the detection of underlying genetic causes.
  • Children with autism spectrum disorders: This method can identify structural chromosomal aberrations that occur in children with autistic behaviours and contribute to improved diagnostic classification.
  • Children with growth disorders: In children with unexplained short stature or above-average growth, array CGH can reveal genetic anomalies that affect growth.: Familial predisposition to chromosomal anomalies

Diagnostics

Array CGH technology is based on comparative genomic hybridisation, in which patient and reference DNA are labelled with different fluorochromes. These labelled DNA samples are applied to a glass slide (array) on which thousands of DNA probes are immobilised at high density. Patient and reference DNA compete to bind to these DNA probes, depending on their relative quantities. By detecting the fluorescence signals using a laser scanner and evaluating them computationally, genomic regions can be identified that are deleted or duplicated in the patient DNA compared with the reference DNA.

Array CGH does not detect monogenic disorders (point mutations), triploidies, low-level mosaics, or balanced translocations. These limitations should be considered when interpreting the results.

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