Chromosomal Microarray Analysis Test Cost & Procedure

With a high sensitivity for submicroscopic abnormalities, chromosomal microarray analysis (CMA) is used to detect clinically relevant microdeletions or duplications. It has a resolution that is up to 1000 times higher than that of traditional karyotyping and can change as minor as 5 to 10 kilobytes.

Copy number variations (CNVs), particularly those considered involved in the pathophysiology of neurodevelopmental diseases and congenital abnormalities, are found using CMA.

CMA can be used in either a prenatal or postnatal environment, each with its advantages and restrictions. It is crucial for practising physicians to comprehend the fundamentals of this technology and be aware of its capabilities and limitations due to the expanding use of CMA.

Why is this test recommended?

Finding the genetic basis for your child's medical problem could be one of the test's outcomes.

Alterations to your child's medical care.

FOuting the likelihood that your child may pass on a genetic mutation to their offspring.

When both parents and the child are tested, understanding the risk for further pregnancies is essential.

• It can result in health issues such as birth abnormalities, seizures, developmental delays, learning difficulties, and autism.
• There aren't always issues.
• The doctor may also wish to test parents and other family members to see if a chromosome is missing or in excess.
• It can enhance the likelihood of various genetic diseases that result in health issues when chromosome part(s) or the whole chromosome pair are the same.

One copy of each chromosome is obtained from each parent. Therefore pairs of chromosomes typically differ. If a significant portion of one chromosome pair is identical, both copies of that chromosome may have originated from the same parent. When numerous chromosomal segments are similar, it may indicate that the parents are somehow blood relatives.

How to Conduct the Test?

• Microarray analysis is most often performed on blood samples.
• Occasionally, saliva or a tissue sample, such as skin, may be used. To detect highly minute missing or additional chromosomal parts that cannot be seen under a microscope, this test compares the patient's sample to a standard control sample.
• The test does not reveal chromosomal structural alterations.
• The test results can take up to 4 weeks to be received.

Result Interpretation:

Average: No chromosomes are missing or have extra bits, and no sizable portions of the chromosomes are the same.

A chromosome has an additional or missing portion, which could lead to health issues or learning difficulties.

However, it is unclear whether this will adversely affect one's health or cognitive development. Discovering a VUS is typical.

Regions of Homozygosity (ROH): One or more chromosome segments have identical genetic makeup.