ARRAY CGH

What is ARRAY CGH?

Array CGH (aCGH), also known as Chromosomal Microarray Analysis (CMA), is an advanced genetic test that analyzes DNA at a highly detailed level to identify changes in the number of copies of genetic material (Copy Number Variations – CNVs).

This test can detect:

• Deletions (losses) of DNA segments
• Duplications (gains) of DNA segments

What can it detect?

ARRAY CGH is highly effective for identifying:

• Microdeletions and microduplications (very small chromosomal changes)
• Known genetic syndromes (e.g., 22q11.2 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, etc.)
• Causes of:
  • developmental delays
  • autism spectrum disorders
  • congenital abnormalities
  • neurological problems

In prenatal diagnosis, it helps identify genetic abnormalities when ultrasound examination raises concerns about structural abnormalities.
When is it recommended?

ARRAY CGH is recommended in various clinical situations:

In children:

• Psychomotor developmental delay
• Autism spectrum disorders
• Congenital physical abnormalities

In adults:

• Suspected genetic syndromes
• Unexplained neurological problems

During pregnancy (prenatal):

• Abnormalities detected on ultrasound
• Family history of genetic diseases
• Recurrent miscarriages

How is the test performed?
The procedure is simple and safe:

• Peripheral blood sample
• Or a prenatal sample (amniocentesis / CVS)
• Analysis in a specialized laboratory