Sma (Spinal Muscular Atrophy); It is a muscle disease known with muscle weakness and atrophy caused by advanced degeneration or loss of anterior horn cells in the spinal cord and brainstem.
Sma is an autosomal recessive genetic disease. It is in the form of Type 1 (severe) SMA, Type 2 (intermediate) SMA, Type 3 (mild) SMA, Type 4 (adult) SMA.
In our country, 250 children with SMA are born annually. We know that one out of 40 people in our country is a carrier. With the increase in consanguineous marriages, this rate is increasing. We can say that if both spouses are carriers of SMA, 25% of their children will be born with SMA, 25% of them will be healthy, and 50% of their children will be carriers.
This genetic disorder, which cannot be understood during the pregnancy process, is the moment you realize that your child cannot crawl and cannot take the first steps after birth, and when you apply to your pediatrician who is interested in this, the child neurology specialist, who is involved in this, applies to the Ankara Genetic Diagnosis Center and detects the SMA disease.
According to TUIK data, there is an average of 1 million 250 thousand live births in 1 year in our country. Considering that the incidence of SMA is 1/6000-1/10,000, 200 children with SMA are born in 1 year. The annual treatment expenses of these children are over 130 million USD.
When CVS (Chorionic Villus Material) is taken from the mother's womb at 12 weeks of pregnancy and brought to Ankara Genetics, you can find out within 1 week whether your baby has SMA.
When you bring AS (Amniotic Synthesis) Fluid in the womb and bring it to Ankara Genetics at the 16th week of pregnancy, you can find out within 1 week whether your baby has SMA.
When you bring cordocentesis (cord blood) from the mother's womb to Ankara Genetics at the 20th week of your pregnancy, you can find out within 1 week whether your baby has SMA or not.
With the diagnosis report received from Ankara Genetic Diagnosis Center; Applications for gene vaccine treatment from the United States are more than 2.5 million dollars.
It can be done before or after marriage. But before having a child, the SMA Carrier Screening Test should be done.
Individuals with 1 SMN1 gene in each chromosome (1+1) are reported as normal because they carry a total of 2 SMN1 genes in tests. However, in some of the people who were determined to have 2 SMN1 genes and reported as normal by these classical tests, there were 2 SMN1 genes on one chromosome, while there were no SMN1 genes on the other chromosome.
In other words, the person has the SMN1 gene structure, which we call 2+0. Although this person is reported as normal by classical SMA tests, he is actually an SMA carrier.
Although there are differences according to ethnic structure, 2 mutations in the SMA gene today;
It is widely used to detect people with the SMN1 gene in the 2+0 structure and to positively affect the SMA risk assessment.
In our country, the rate of having the SMN1 gene in the 2+0 structure of people who are reported as normal is not yet known statistically.
In the event that the kits used for SMA investigate the 2 mutations mentioned above, such kits are called “Enhanced SMA” kits.
As Ankara Genetics Laboratory, "Enhanced SMA" kits produced by SNP Biotechnology Company and capable of analyzing both mutations are used in SMA tests.
It is sufficient for a single parent to take the SMA Carrier Screening Test. It is absolutely necessary to look at the spouse of the individual who is carrier of the SMA Carrier Screening Test. If the carrier is not found, the child can only be a carrier with a 50% chance. The person she will marry should also have the SMA Surrogacy Screening Test.
If both parents are carriers, IVF treatments are covered free of charge by the state. In IVF treatment, all embryos are transferred to the patient by looking at the Sma Carrier gene and selecting healthy embryos.
Couples who are determined to be carriers of SMA will be able to have healthy children by using IVF (In-vitro Fertilization),that is, in vitro fertilization and embryo selection, and Pre-Imlatation Genetic Diagnosis opportunities. As a result, it is possible for individuals with SMA carriers to have healthy children with PGD.
It is possible to get accurate and reliable results within 7 working days by giving a tube of blood to the Private Ankara Genetic Diagnosis Center, regardless of whether you are a Sma carrier or not.
An average of 555 thousand couples get married annually. Did you know that if every couple who wants to have a child takes the SMA Test, you will not see a child with SMA in you or around you after 5 years?
Genetic testing is used for the SMN 1 Gene with the aim of detecting that we do not have genes that carry the risk of Sma. It is necessary to determine the deletions and duplications of the SMN 1 genes that cause the disease and the SMN 2 genes that will affect the clinical picture.
A homozygous deletion of the SMN 1 gene, EXON 7, is detected in an average of 98% of SMA patients. A single SMN 1 gene with a point mutation is observed in 2% of patients. The copy number of SMN 1 gene, which is important in genetic studies, and in addition to this, the copy number of EXON 8 determines the situation.
The presence of 2 copies of gene amplification pertaining to the region in a quantitative real time pcr study used to analyze the deletion of SMN 1, EXON 7 and EXON 8, which causes Sma in the range of 92-96%, indicates that the patients are normal and not carriers.
As one of the most important tests to be done before marriage, another genetic test accompanying Beta Thalassemia has become mandatory as of 27.12.2021, the SMA Carrier Screening Test. Ankara Genetic Diagnosis Center is the only address to get reliable results in a short time.
In a short time, you can get reliable results from Ankara Genetic Diagnosis Center with 20 years of experience. For price information, you can get information from WhatsApp line +90 0532 746 93 36, for fixed line +90 0312 217 32 26.
+90(312) 217 3226We provide genetic analysis and clinical consultancy services, using the most up-to-date scientific knowledge, diagnosis and treatment methods, with the highest technology and quality standards.
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