Skip to main content

Chromosomal Microarray Analysis (CMA)

Uncovering Chromosomal Abnormalities

What is a CMA test?

Chromosomal microarray analysis (CMA) is a powerful diagnostic test that offers higher-resolution analysis of the genome compared to traditional prenatal screening tests for detecting chromosomal abnormalities.

This test detects copy number variants (CNVs), which are chromosomal abnormalities such as deletions, duplications, insertions, aneuploidy, and regions of homozygosity associated with major or rare genetic disorders.

CMA provides high-resolution insights into genetic abnormalities, aiding in the diagnosis and understanding of various medical conditions.

What is CMA test

Why Cordlife CMA?

Tested by an internationally certified laboratory in South Korea
Capable of detecting more than 5,200 chromosomal abnormalities
Highest resolution genetic testing available
Turnaround time of 12 to 14 days
Utilises clinically validated technology, tested on over 5,399 clinical samples
Genetic counselling provided in the event of a positive result

Who is the test suitable for?

Pregnant Woman
  • Those with positive results from prenatal screening for Down syndrome
  • Individuals whose ultrasounds reveal abnormalities
  • Individuals with high-risk NIPT results

Sample required: Amniotic Fluid

cma-couple
Couples
  • Potential carriers of chromosomal abnormalities
  • Parents who have had a child with a congenital abnormality
  • Those who have experienced recurrent miscarriages

Sample required: Buccal swab or whole blood

cma-children
Children
  • Individuals displaying symptoms of developmental delay, intellectual disability, and autism spectrum disorders
  • Those with multiple congenital anomalies, including dysmorphic facial features
  • Children who have undergone tests that failed to yield a diagnosis

Sample required: Buccal swab or whole blood

CMA compared to traditional karyotyping

Able to detect more
pathogenic CNVs

CMA testing can detect approximately 4% of pathogenic copy number variants (CNVs) that are not visible through karyotyping.1

Proven higher
diagnostic yield

According to 33 published studies involving 21,698 patients, CMA testing exhibits a diagnostic yield of 15% to 20%, compared to 3% for karyotyping.2

Higher
Resolution

The resolution of CMA testing exceeds 200kb, in contrast to the 5-10Mb resolution of karyotyping.

Recognised as a first-tier diagnostic test

CMA testing has superseded karyotyping due to its higher sensitivity and specificity.3

Find out more:

References:

  1. Cicatiello R, Pignataro P, izzo A, et al. Chromosomal microarray analysis versus karyotyping in fetuses with increased nuchal translucency. Med Sci (Basel). 2019;7(3):40.
  2. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
  3. Martin CL, Ledbetter DH, Chromosomal microarray testing for children with unexplained neurodevelopmental disorders. JAMA. 2017;317(24):2545-2546.