CGH Chromosome Array Test

CGH Chromosome array test is offered to children to rule out genetic causes of developmental delays, intellectual disabilities, autism spectrum, psychiatric illness, unexplained seizures & neuromuscular conditions.
This technique is not limited by tissue culture failure which affects traditional techniques like karyotyping

Array CGH detects chromosomal change, sub microscopic abnormalities, copy number variation (CNV)

CGH Chromosome array test requires a blood sample. A tourniquet (elastic) band is placed tightly on the upper arm. The patient is then asked to make a fist. This helps in the build-up of blood filling the veins. The skin is disinfected before needle insertion and the blood sample is collected in vacutainer

Array CGH can detect aneuploidies, large deletions & copy number variants. Parents will genetic counselling to understand results better, assess prognosis, understand recurrence risk and decide on management and preventive measures
This technique will not detect balanced chromosome rearrangements (which do not result in deletion or duplication of genetic material) and low level mosaicism