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Genetic carrier screening

Genetic carrier screening - who? 
A genetic carrier screening is offered when in-depth genetic mapping and testing, and before a fertility treatment or in conjunction with reapeated miscarriages, is desired. A genetic carrier screening can also be used for anyone who wants to and avoid transmitting one or more genetic diseases to their future children. If anomalies are found when analyzing a genetic carrier screening, guidance and suggestions for optimized or specified fertility treatment are provided.

What is a gene and which genetic mutations are analysed? 
Each individual carries two sets of alleles; one from each parent. These genetic predispositions are made up of genes, that encode vital proteins.

Normally, one of the two inherited copies of the gene is sufficient to function properly. If the child inherits double defective sets of the same gene, it loses the ability to produce a functional protein with disease as a result. With a genetic pathogen test, single, or a large number, genetic anomalies can be analyzed, the choice of analysis is made in consultation with the individual or the couple. The most common diseases identified are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome, Sickle Cell Anemica, Thalassemia, and Polycystic Kidney. The most common diseases identified are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome, Sickle Cell Anemia, Thalassemia and Polycystic Kidney.

How common are genetic diseased?

According to WHO, the prevalence of autosomal recessive disease is 10 children in 1000 births. These diseases account for 50% of mortality among children in the western world.  82% of couples who give birth to a child with an autosmomal recessive disease do not know that they are the carrier of the genetic mutation. The uncertainty regarding the carrying of the genetic mutation means that the gene can be transmitted for several generations without causing disease. It is only when two individuals carrying the gene have children that it shows itself.

Procedures for analysis of a genetic carrier screening
1. Contact is made with the clinic. Consultations with doctors are planned for information and advice.
2. Blood samples are taken.
3. The genetic analysis is performed.
4. Answers to the analysis are obtained, a review and reading  of the written report is made.

What does a negative result mean?
A negative test result indicates that there is no carrier of the gene changes analyzed. However, no test is absolutely perfect and a small risk of carrying can still exist.

What does a positive result mean? 
A positive test result involves carrying a gene that leads to the development of a genetic disease. This means that there is a risk that a future child may be born with the disease. If there is a carrier, it is appropriate that the partner is also checked, given that this has not been done from the beginning. If both two in a couple intending to have children together are carriers of the gene for the disease, it means that the risk is 1 in 4, ie 25%, that the child will be born with the disease.

What if both are carriers?
If a genetic carrier test shows the risk of transmitting genetic disease to the future child, ie when both parties are carriers, various conceivable strategies can be used to avoid transmission of the disease. Consultations with doctors and clinical geneticists are recommended before decisions are made.
1: Fertility treatment in the form of IVF where pre-implantation genetic diagnostics (PGD or PGT-M) are performed on the embryo prior to reintroduction, ie embryos carrying the gene are not returned to the woman.
2: Fertility treatment with donated eggs or sperm. The donor has then been investigated in the same way and is not a carrier.
3: Adoption is also an alternative.

Analysis with genetic carrier screening should be seen as complementary to regular basic research provided by health care. All genetic testing is completely voluntary and is carried out on a private basis as desired.

Prices for analysis of genetic carrier screening including pre-sampling advice and review of results:
-One gene (Cystic Fibrosis or Spinal Muscular Atrophy)
SEK 4100
-One gene (Fragile X-syndrome)
SEK 4400
-Two genes (duopanel; Cystic Fibrosis and Spinal Muscular Atrophy)
SEK 6100
-Three genes (tripanel;Cystic Fibrosis and Spinal Muscular Atrophy and Fragile X-syndrome)
SEK 6300
-Panel for analysis of 29 different genetic diseases
SEK 8500
-Panel for analysis of 250 different genetic diseases
SEK 9800
-Panel for the analysis of 600 different genetic diseases
SEK 12000

If additional counseling and continued guidance is needed after completion of the analysis and results review, time is booked to the doctor; visit SEK 1300.

If you have any questions you are welcome to contact us!
+46 (0)18-12 80 17
+46 (0)76-184 85 85