The decision to start a family and have children is one of the most special moments of life. However, some genetic diseases can be passed on to children as a result of the combination of carrier genes carried by the mother and father. Genetic carrier tests can help families assess this risk and engage in informed family planning.
These tests help examine genetic factors that pose risks to the health of your future children. Here are some basic things you need to know about these tests:

What is Genetic Carrier?

Genetic carrierness refers to the situation where a person carries a genetic disease but does not experience that disease himself. If both parents are carriers for a particular disease, the risk of developing this disease in their children increases.

Which Diseases Are Tested?

A genetic carrier panel may include a number of genetic diseases. For example, cystic fibrosis, spinal muscular atrophy (SMA), sickle cell anemia and many other genetic diseases can be detected with these tests. A different genetic panel is applied for each disease.

SMARIS SMA TEST

Spinal muscular atrophy (SMA) is a neuromuscular genetic disease that limits mobility by degeneration of the anterior horn cells of the spinal cord, causing muscle wasting and weakness.
The disease, which affects mobility by affecting many muscles in the body, significantly reduces people’s quality of life. It is considered the most common cause of death in babies.
In SMA, which in some cases even makes eating and breathing impossible, vision and hearing are not affected by the disease and there is no loss of sensation. The person’s intelligence level is normal or above normal.
SMA may occur when parents continue their healthy lives without being aware that they are carriers, and when this disorder in their genes is passed on to the child. The incidence of SMA in the children of carrier parents is 25%. The definitive diagnosis of SMA disease is made by genetic examination. MLPA method is used to detect deletions/duplications in the SMA gene.

SMARIS BASIC TEST

What Diseases Do We Detect?

• Spinal Muscular Atrophy -SMA
• Duchenne Muscular Distrofi- DMD
• Fragile X Syndrome
• Alpha Thalassaemia – HBA

Is a neuromuscular genetic disease that causes muscle loss and weakness by degeneration of the anterior horn cells of the spinal cord, limiting mobility. The disease, which affects mobility by involving many muscles in the body, significantly reduces the quality of life of people. It is considered the most common cause of death in infants. In SMA, which makes even eating and breathing impossible in some cases, the senses of sight and hearing are not affected by the disease and there is no loss of sensation. The person’s intelligence level is normal or above normal. While parents continue their lives in a healthy way without realising that they are carriers, SMA may occur when this disorder in their genes is passed to the child. Taşıyıcı ebeveynlerin çocuklarında SMA görülme oranı %25’tir. The definitive diagnosis of SMA disease is made by genetic examination. MLPA method is used to detect deletion/duplication in the SMA gene.

Cystic Fibrosis:

It is a genetic disease that can be seen in the lung, pancreas, intestine, sweat glands and other external secretion glands. In simple terms, this disease occurs as a result of the combination of special genes from the mother and father. Cystic fibrosis has an autosomal recessive inheritance, meaning that mutated genes must be inherited from both parents. The main feature of this disease is the condensation and decreased fluidity of the fluid that keeps the lungs clean. As a result, mucus accumulates in the respiratory tract and the risk of infection increases. If both parents are carriers, each child has a 25% risk of contracting the disease. Therefore, your family history and genetic counseling are important.

For the diagnosis of Cystic Fibrosis, 50 disease-causing mutations are scanned.

SMARIS FOCUS TEST

Which Diseases Do We Detect?

• 296 genes in women and 276 genes in men are scanned with the New Generation Sequencing Method.
• Spinal Muscular Atrophy -SMA
• Duchenne Muscular Dystrophy- DMA
• Fragile X Syndrome

*The reason why the number of genes in men and women is different is due to the differences in genes carried on the X chromosome.

Alpha Thalassemia – HBA:

It is a genetic blood disease characterized by insufficient hemoglobin production as a result of mutations in the genes encoding alpha globin chains. Alpha thalassemia occurs in approximately 1 in every 1000 births worldwide.