A Guide to Test that would save your baby from Genetic Disorders

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 newswill guide you through the most frequently asked questions regarding theCarrier Genetic Test (CGT), an important family planning a genetic test todetermine the risk of having a child with a genetic disorder.

What is CGT?

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

The CGT isan important family planning genetic test, because it helps to determine therisk of having a child with a genetic disorder. The test results inform onwhether the parents are carriers of one or more genetic mutations responsiblefor causing a genetic disorder.

I am a healthy person. Can I be acarrier of geneticmutations?

Yes, infact, it is estimated that each person carries between 3-5 recessive geneticmutations. Being a carrier is not the same as getting the disease. Everyone hastwo copies of each gene. In individuals carrying, one of the copies is workingcorrectly, and the other copy has the mutation.

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

Will my children be carriers ofrecessive geneticmutations?

When twopeople carry a mutation in the same gene they have a 50% chance that theirchildren will be carriers of the same genetic mutation (healthy), 25% will benon-carriers (healthy) and 25% will be affected. Carriers are a mostly healthyindividual just like you.

If positive in CGT testing, thenwhat’s next?

A positiveresult means the presence of one or more mutations in the individual. In thatcase, 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 riskof having an affected child. In such cases, there are options to conceivehealthy children by IVF using technology such as Preimplantation GeneticDiagnosis or gamete donation. It is also possible to conceive naturally andresort to prenatal diagnosis. A negative result indicates that the person doesnot carry any of the mutations studied and there is no risk to their to be bornchild.

When should we perform CGT whilegoing for IVF? Whatis the turnaround time for results?

Test resultsare available in 30-40 working days. CGTtest should be performed beforeplanning the IVF cycle. In cases where the beginning of treatment is veryclose, always take the CGT of the two partners simultaneously so that theresults are obtained at the same time and the process is not delayed.

Why opt for CGT by Igenomix?

Igenomix CGTis unique genetic screening test based on Next Generation sequencing (NGS) andis clinically validated, making it the most comprehensive and accurate test. Itanalyses more than 6600 genetic mutations corresponding to over 600 geneticdisorders.


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