23 August 2017

A Guide to Genetic Screening Tests

Every couple have plenty of questions in their minds before planning for a baby and one among them is the risk of passing the genetic disorder to thei...


Every couple have plenty of questions in their minds before planning for a baby and one among them is the risk of passing the genetic disorder to their to be born child. The absence of detail knowledge about genetic disorders and technology/tests to prevent passing the same, sometimes result in the birth of an affected child.

This article will guide you through the most frequently asked questions regarding the Carrier Genetic Test (CGT), an important family planning a genetic test to determine the risk of having a child with a genetic disorder.

What is CGT?

Each year, many parents are surprised by the birth of a baby with some genetic disorder. Igenomix has developed an advanced genetic screening test before pregnancy, which can reveal whether a couple is at risk of having a baby with one of these serious disorders. If so, the couple can take further steps to avoid inheriting the disorder to further generation and have a healthy baby.

The CGT is an important family planning genetic test, because it helps to determine the risk of having a child with a genetic disorder. The test results inform on whether the parents are carriers of one or more genetic mutations responsible for causing a genetic disorder.

I am a healthy person. Can I be a carrier of genetic mutations?

Yes, in fact, it is estimated that each person carries between 3-5 recessive genetic mutations. Being a carrier is not the same as getting the disease. Everyone has two copies of each gene. In individuals carrying, one of the copies is working correctly, and the other copy has the mutation.

The carriers are mostly healthy individuals, so they are never aware of this condition until they get themselves tested.

Will my children be carriers of recessive genetic mutations?

When two people carry a mutation in the same gene they have a 50% chance that their children will be carriers of the same genetic mutation (healthy), 25% will be non-carriers (healthy) and 25% will be affected. Carriers are a mostly healthy individual just like you.

If positive in CGT testing, then what’s next?

A positive result means the presence of one or more mutations in the individual. In that case, the test should be carried out also in the other partner of the couple. If both are carriers of a mutation in the same single gene, there is high risk of having an affected child. In such cases, there are options to conceive healthy children by IVF using technology such as Preimplantation Genetic Diagnosis or gamete donation. It is also possible to conceive naturally and resort to prenatal diagnosis. A negative result indicates that the person does not carry any of the mutations studied and there is no risk to their to be born child.

When should we perform CGT while going for IVF? What is the turnaround time for results?

Test results are available in 30-40 working days. CGT test should be performed before planning the IVF cycle. In cases where the beginning of treatment is very close, always take the CGT of the two partners simultaneously so that the results are obtained at the same time and the process is not delayed.

Why opt for CGT by Igenomix?

Igenomix CGT is unique genetic screening test based on Next Generation sequencing (NGS) and is clinically validated, making it the most comprehensive and accurate test. It analyses more than 6600 genetic mutations corresponding to over 600 genetic disorders.


Know more about CGT

Topics: carrier genetic test, genetic mutation, genetics, advanced genetic services, CGT, genes, genetic disorders, genetic lab

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