The Carrier Screening Test

Elite Clinic offers a DNA test prior to pregnancy which prevents genetic disorders in the baby.

The Carrier Screening Test or Carrier Genetic Test (CGT) is an important genetic test when planning a family, because it helps to determine the risk of having a child with a genetic disease. This test tells us whether the parents carry one or more known recessive genetic mutations. Carriers are usually healthy but when two parents carry a mutation in the same gene they might produce an affected child. Anyone, without knowing, can be a carrier of one or more mutations. The Carrier Screening Test allows us to know which genes are altered in each person.

The procedure is carried out through a simple blood analysis.

Link >> The list of genetic diseases tested

 

Why do a Carrier Screening Test?

Generally, parents only realize they are carriers of serious genetic disorders after an affected child is born. Genetic disorders can’t be cured, but they can be prevented. It is the only clinically validated test.

 

Who is the Carrier Screening Test for?

We all have changes in our genes and the carrier screening test allows us to find out whether they could cause a disease in our children.

The test is recommended in the following cases:

  • Before attempting a pregnancy by natural means:
    for any woman who wants to become pregnant in order to know the risk of transmitting possible disorders to her children.
  • Before an assisted reproduction treatment:
    it is advisable to find out the risk of transmission and to be able to determine the best type of treatment in each case.
  • Before treatment with donor sperm or eggs:
    In order to be able to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes (eggs or sperm).

 

Cost of test including CGT match (written information regarding risks and matching):

CGT 600

Analyzes by massive sequencing 6,600 pathogenic mutations and 549 genes linked to more than 600 genetic disorders. It is the most complete panel currently available.

1150 EUR (donor) + 1150 EUR (partner using donor) = 2300 EUR
1150 EUR (female partner) + 1150 EUR (male partner) = 2300 EUR

CGT 250

Panel which includes analysis by massive sequencing (NGS) of 250 genes and 3,500 mutations associated to the most prevalent diseases.

910 EUR (donor) + 910 EUR (partner using the donor) = 1820 EUR
910 EUR (female partner) + 910 EUR (male partner) = 1820 EUR

 

Modern medicine has done much to offer more and more additional possibilities of genetic testing but they are rather expensive and do not give absolute information which kind of diseases will affect the future child, testing provides only the information about tested genes and their related diseases.

It helps to determine the risk of having a child with a genetic disease. This test tells us whether the parents carry one or more recessive genetic mutation. Carriers are usually healthy but when two parents carry a mutation in the same gene they might produce an affected child. Anyone, without knowing, can be a carrier of one or more mutations.

Most people today don’t use genetic matching and main reason for that is a high cost. At least you must know about this possibility.

Additional information:

  1. The test result takes up to 4 weeks. If you would like to perform the test, we can start with program after getting the result.
  2. Every man and every women has changes in their genes. If both a man and a woman have the same mutation the child might have a genetic disease. The result informes us about a risk, the results is not an absolute fact that a child will be affected. The global prevalence of all single gene diseases at birth is approximately 10/1000 : WHO-Genes and human diseases
  3. With the help of this test we can control only a part of the most common genetic diseases that occur more often, we cannot control and have information about all genetic diseases.
  4. According to scientific investigations maybe about 8% of donors are incompatible with your husband.
  5. All donors according to Estonian law are tested for karyotype, Cystic fibrosis and Fragile X chromosome. Our donors are investigated by a psychologist. This is a standard that is usually practised in IVF centres testing the donors in Europe.
  6. Each person has more than 100,000 genes. We do not test them, we don’t have enough knowledge about this complicated system.
    Risk for genetics diseases is rather small but still exists as everyone has gene defects. And an additional testing could give additional information about the risks.

Our other clinics

 

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Tartu, Kalda tee 34
Tel. +372 734 3434 , +372 58055111
jana@elitekliinik.ee
www.elitekliinik.ee/gyne
Tartu, Tähe 95
Tel. +372 734 8145 , +372 55668295
heidi@elitekliinik.ee
www.elitekliinik.ee/tahe
Jõhvi, Jaama 32
Tel. +372 55 539 020
johvi@elitekliinik.ee
www.elitekliinik.ee/gyne-johvi