Carrier Screening Test

Are you planning to have a baby?
Did you know that it is the combination of genes of the couple that determines the health of the child!
Large gene table
Screening for up to 302 genes
Provide comprehensive information
Includes 300 metabolic genetic diseases
Tests have high reliability and accuracy
The test is performed in a CAP and CLIA certified laboratory that performs genome-wide and loss/replica analysis using Next Generation Sequencing (NGS) technology.
Carrier Testing and Screening Service at CHEK Genomics

Currently, CHEK provides an extremely modern carrier screening test service with the ability to analyze gene panel up to 302 genes for 302 dangerous genetic diseases. The ability to detect the risk of diseases in which they can be cirrhosis, spinal muscular atrophy (SMA), sickle cell anemia, G6PD deficiency and many other diseases.

With the test service at CHEK Genomics, the carrier screening test will be carried out in a modern laboratory, which is certified by the leading US laboratories- CAP (College of American Pathologists) and CLIA (Clinical Laboratory Improvement Amendments). The process of analyzing a whole genome and loss/repetition is using New Generation Sequencing (NGS) technology, so it provides fast and high-accuracy decoding capabilities.

Testing Procedure
Parent Sample Collection
Blood or saliva collection
Couple Gene Screening
New generation sequencing technique is applied at an international prestigious laboratory
Result Interpretation
Send results to the prescribing doctor and conduct genetic counseling and next treatment within 14-21 days*

Newborn screening is the best solution to detect dangerous diseases in babies right from birth. The implementation of screening helps doctors have timely interventions, ensuring the newborns comprehensive physical and mental development. Follow our next section if you still have questions or concerns about our screening service!

This is a type of test performed on the genome of the father or mother before getting pregnant with the aim of screening for mutated genes that can affect the health and development of the upcoming baby.

Most carrier screening tests are for recessive genetic diseases. A child will get a genetic disease if she or he carries two genes – one from the mother and one from the father. If the person who carries one disease-causing genes called a carrier. Commonly, carriers will not know that they have the gene that causes the disease, and they also have no symptoms or mild symptoms.

Parents are at risk of passing the disease on to their children

One of the main reasons why couples should conduct carrier screening tests before becoming pregnant is because parents have the risk of passing on unwanted genetic mutations to their children. These gene mutations increase the risk of rare diseases, genetic disorders or birth defects in babies.

Specifically, there are more than 700 genetic diseases that children can get if one parent has disease- carrying gene.

The number of disease genes belonging to the parents’ genome can be passed on to their children up to 5000 genes. These genes can cause extremely dangerous genetic diseases in children. Most children born with genetic diseases are because their parents do not know that they carry the disease gene, thereby accidentally passing it on to their children.

To make sure the good health for newborn, carrier screening is truly necessary. This test helps us detect mutated genes that can affect the health and development of the upcoming baby.

One of the reasons why you should conduct carrier screening test is an extremely dangerous genetic disease. Currently, there are 4 groups of common genetic diseases with high danger:

  • Group of cancer genetic diseases: breast cancer, ovarian cancer, prostate cancer, lung cancer, etc.
  • Group of genetic cardiovascular diseases: heart failure, congenital heart defects, heart valve disease, aortic aneurysm, …
  • Group of neurodegenerative genetic diseases: dementia, Parkinson’s disease, Alzheimer’s disease, …
  • Group of genetic diseases of birth defects: cleft palate, muscle atrophy, vitreous bone, …
    These genetic diseases are all very dangerous. To avoid putting your baby at risk for these diseases, get gene screening.

The carrier screening test has the best value for those planning to become pregnant.

This gives you more information about your reproduction risk, you will get more time to make the best decisions.

It’s not just women who are going to get pregnant who need carrier screening test to screen for unwanted gene mutations. Even women who are in and after period of pregnancy should have this type of test. Specifically, the carrier screening test contributes to diseases such as cystic fibrosis, hemoglobin abnormalities, and muscular dystrophy.

In case you are pregnant, doctors recommend that you should take the test before 12 weeks of pregnancy. However, at this time, your thinking time as well as the number of options will be less than taking the test before deciding to get pregnant.

In particular, if your family has a family history of having a genetic disease or is at risk for race-specific diseases (Ashkenazi Jewish, French Canadian, and Cajun), you should take carrier screening test. This test is also essential when the couples are closely related to each other.

Besides, even if you don’t have a family history of genetic diseases, conducting a gene screening test should be taken into consideration. This is because recessive inherited diseases often show no signs or symptoms in the situation of a carrier, but the disease can develop at birth if the baby carries a combination of the two recessive genes on same disease. At the same time, this test also provides more information about risks of your reproduction.

If you carry the recessive gene, your partner should also have a screening test to see if your baby will be at risk of carrying the abnormal gene.

In the case that both spouses do not carry the same genetic mutation, there is a 50% chance that the baby will not carry common genetic abnormalities checked by the test and 50% of the baby will carry the gene same as you.

In case both husband and wife have the same genetic abnormality, there is a 50% chance that the baby will be normal and carry the same recessive gene as the two of you, 25% of the baby will be completely normal and does not carry the same genetic abnormality as you and there is a 25% chance that your baby will carry the abnormality from both of you and disease or genetic abnormality exposure.

However, to reduce the risk of the baby carrying the disease, the couple can do the following solutions:

  • Visit a specialist for the specific advice to each case.
  • You can still get pregnant and have prenatal diagnostic tests to see if your baby is carrying the disease.
  • Use methods such as in vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), or preimplantation genetic screening (PGS).
  • Use donor eggs and sperm.
  • Conduct prenatal testing with methods such as chorionic villus sampling or amniocentesis.
  • Adopt children.
  • If your baby is already born, you may consider a genomic newborn screening test.

Above is some general information about carrier screening test. To make sure your baby is born healthy, get a prenatal gene screening test.

For more advice on services at CHEK, please contact hotline 091 176 3082 or email for the fastest support.