Chromosomal Microarray 750K Test
About Chromosomal Microarray 750K test
The chromosomal microarray (CMA) 750K test is a high-resolution genetic analysis tool used in clinical settings to detect chromosomal abnormalities. It examines genetic markers across an individual's genome, providing detailed insights into genetic variations such as deletions, duplications, and loss of heterozygosity (loss of one parent's contribution to the cell). This test offers superior resolution compared to traditional cytogenetic methods such as karyotyping, enabling the detection of smaller genetic changes associated with developmental disorders, intellectual disabilities, and congenital anomalies.
Thus, getting this test done is recommended to diagnose chromosomal abnormalities.
Symptoms of chromosomal abnormalities
Symptoms that might suggest the necessity for a chromosomal microarray 750K test include:
Developmental delays
Intellectual disabilities
Congenital anomalies
Unexplained seizures
Autism spectrum disorder
Recurrent miscarriages
Infertility
Family history of genetic disorders
Who should get tested?
You might need a chromosomal microarray 750k test, if you:
Are planning to have babies or get pregnant
Have a family history of genetic/chromosomal disorders
Have symptoms of genetic disorder
Have a history of recurrent miscarriages
Preparation for the test
No special preparation is required before undergoing the chromosomal microarray 750K test.
Interpretation of the results
Abnormal or positive test results
Abnormal or positive test results indicate that you have an unusual structure or number of chromosomes (that is, one more or less than the normal 46 chromosomes in a cell). Abnormal results may mean that you and your child may have changes in the structure or number of chromosomes. A healthcare provider will help you understand what exactly your results mean.
Negative test results
Negative results indicate that you have a normal number of chromosomes i.e., 46 chromosomes without any structural abnormalities.
FAQs
How is the sample collected for the chromosomal microarray 750K test?
Your healthcare provider will insert a small needle into a vein in your upper arm and collect a few mL of blood. It might cause a feeling of slight sting or a bruise at the site of needle insertion. This usually resolves within a few minutes to a couple of hours.
Does this test pose any risks?
This test carries negligible risks. However, you may experience bleeding, infection, or bruising at the site of needle insertion, as well as experience a feeling of light headedness.
What is the turnaround time (TAT) for chromosomal microarray 750K test results?
The test results can be obtained within 2-3 working weeks after the sample collection. TAT may vary, depending on the particular diagnostic clinic.
How are the chromosomal microarray 750k test results used clinically?
Clinically, the results of CMA testing serve as an essential pathway for families of children with previously undiagnosed conditions, potentially leading to additional support and resources. A variant detected through CMA may not only offer a long-awaited explanation for a patient's clinical presentation but also guide further medical management, inform treatment strategies, and facilitate genetic counselling for families. Additionally, it can aid in predicting potential health outcomes and recurrence risks for future pregnancies, empowering families with valuable information for informed decision-making and personalized care.
Is it recommended for all pregnant women to undergo the chromosomal microarray 750k test?
It is not recommended for all pregnant women to undergo the chromosomal microarray 750K test. Typically, this test is suggested for women with certain risk factors, such as advanced maternal age or a history of genetic disorders. Healthcare providers assess individual risk factors to determine if the test is appropriate.
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