A genetic disease is any disease that is a result of irregularities in the genetic material. There are about 7000 known genetic diseases, and they affect millions of people worldwide. It is estimated that every human has about 7-10 severe mutations that can cause a genetic disease. Genetic testing is the best way of detecting an increased risk of developing them.
Genetic tools provide information regarding the presence of genetic mutations responsible for the emergence of somatic symptoms; additionally, they enable us to determine and prove the presence of hereditary genetic defects and predict the possibility of getting ill in the future. If an elevated risk of developing a certain genetic disease is identified, it is advised to turn to a physician, who will then refer the patient to specialized diagnostic tests.
The results of genetic analyses are especially important for people with chronic diseases of unknown origin and people whose blood relatives suffer from genetic defects. They make patients and their families aware of the prognostic risk of developing a genetic disease and the benefits of educated preventive measures.
The tests detect specific changes in genetic material. The analysis of risk of developing a certain disease is based on the analysis of the most frequent mutations occurring in genes crucial for the disease. We analyze single nucleotide polymorphisms (SNP), whose presence causes abnormal gene function.
Risk of Alzheimer's Disease
This chapter of the report is concerned with the potential risk of getting Alzheimer's disease. It is an incurable disease characterized by gradual deterioration of brain cells. It leads to a progressing decline of functions of the central nervous system, such as motor control, memory, etc., and eventually, to a complete loss of self-reliance and independence. With proper prophylactic, its progress can be delayed.
Genetic Susceptibility to Bipolar Disorder
This section determines genetic susceptibility to bipolar affective disorder. It is a group of disorders which are characterized by alternating depression and manic episodes. Often, there are no symptoms at all between these episodes.
Genetic Susceptibility to Multiple Sclerosis
Multiple Sclerosis (MS) is a progressive disease of the central nervous system. During the course of this disease, neurolemmas are damaged, which, in consequence, leads to disruptions in the transmission of information between neurons. MS manifests itself in many neurological disorders. This section of the report determines the potential risk of genetic susceptibility to multiple sclerosis.
Risk of Inflammatory Bowel Disease (Crohn's Disease)
This section presents information about the potential genetic risk of Crohn's disease. It is a chronic inflammatory bowel disease. The first stage of the disease is often uncharacteristic - it manifests in with long-lasting diarrheas, stomach aches, intestinal obstruction, and lumpy resistance in the abdominal cavity. Its causes are not fully known, but it is, in part, genetically conditioned. In case of an elevated genetic risk of this disease, conforming to a proper diet can alleviate the symptoms.
Risk of Beta-Thalassemia
This section contains information about the damaged copies of genes responsible for the occurrence of beta-thalassemia. It is a congenital disease caused by the production of incorrect hemoglobin chains. Its symptoms are an enlarged spleen, jaundice, anemia, tiredness, and shallow breath.
Risk of Galactosemia
Galactosemia is a metabolic disease caused by the lack of an enzyme responsible for the metabolism of galactose – a sugar present in dairy and grain products. The accumulation of this substance in the system causes damage to many organs. This section of the report contains information about whether you possess the damaged copies of genes responsible for causing galactosemia.
Risk of Asthma
This section contains information about genetic predispositions towards asthma. It is a disease characterized by dyspnea, whistling breath, and coughing fits. Asthma can be connected with allergies to specific allergens, or be caused by unknown factors. To slow down the progress of asthma, you have to minimize contact with pathogenic environmental factors.
Risk of Trimethylaminuria
This section contains information about the risk of having damaged copies of genes responsible for causing trimethylaminuria - a rare genetically conditioned metabolic disease. An insufficient amounts of the enzyme responsible for the metabolism of trimethylamine leads to the accumulation of this compound in the system. Its release with sweat, urine and in breath is accompanied by a strong fish odor.
Risk of Parkinson's Disease
This section contains information about the potential genetic risks of Parkinson's disease. This disorder is most often encountered in people above 60 years of age, and it is caused by decay of brain cells - so called substantia nigra. The symptoms of the disease include muscle shaking, speech disorders, salivation, cognition problems, and mental symptoms.
Risk of Alkaptonuria
Alkaptonuria is a genetically conditioned metabolic disease. It causes the cumulation of homogentisic acid in the system, which changes the color of the tissue and damages it. The symptoms of this disease are mainly: a dark hue of urine, yellow-brown spots on the skin, hearing disorders, and changes in bones and joints. This chapter contains information about whether the genome has any damaged copies of genes responsible for alkaptonuria.
Genetic Susceptibility to AIDS
This section contains information about genetic susceptibility to becoming infected with the HIV virus. It is the human immunodeficiency virus, which damages the human immune system. The infection may lead to the development of acquired immune deficiency syndrome (AIDS). A higher or a lower resistance to HIV infection is conditioned by, among other things, the mutation of the CCR5 gene.
It is impossible to change genetic risk factors, but you can change your lifestyle and some environmental risk factors. With the prognosis of an increased genetic risk, the customer obtains information that can help them plan, with the physician's oversight, some preventive measures that will improve their health, such as changing their lifestyle and regular medical check-ups.