Familial cancer predispositions, heart muscle, and cardiovascular diseases, some heart rhythm disorders, and some metabolic diseases, which are common in the community, are evaluated.
1- BASIC GENETIC RISK ASSESSMENT PACKAGE
It is a package that includes genetic disease evaluations that are common in the community and reduce the possible problems that a person may experience by taking precautions when detected. The “Basic Genetic Risk Assessment Package” includes genes associated with common familial cancer predispositions, common heart muscle, and cardiovascular diseases, some heart rhythm disorders, and some metabolic diseases.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• Whole Society
Number of genes to be examined
• 101
This package contains the genes identified by ACMG and some of the genes recommended by our center.
https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/
Evaluations that can be made as a result of the genes examined
• Common genetic heart diseases
• Common metabolic diseases
• Common familial cancers
2- NEWBORN GENETIC RISK ASSESSMENT PACKAGE
In newborn babies, some diseases do not show symptoms as soon as they are born but cause life-threatening diseases that may negatively affect the life-long quality of life and may affect many organs can be observed. Many of these diseases are very difficult to diagnose and can only be diagnosed with a genetic analysis. Once
diagnosed, medical treatment is possible in a significant number of them. They have positive effects on the quality of life of the patients and are diseases that can cause the family and the baby to spend a significant part of their life in the hospital if not diagnosed.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• All newborn babies
• All babies under 2 years old
Number of genes to be examined
• 5079
Evaluations that can be made as a result of the genes examined
• Bleeding tendency
• Blood diseases
• Bone fragility
• Developmental delay
• Heart diseases
• Liver spleen size
• Hypotonia
• Skin diseases
• Metabolic diseases
• Immune system diseases
• Skeletal diseases
• Risk of epilepsy
3- COVID-19 GENETIC RISK ASSESSMENT PACKAGE
Covid-19 has completely changed our lives in recent years and unfortunately caused us to lose many loved ones. In addition to the losses, many people may have problems that last for a very long time after they have had the disease, while some people have a very mild disease, while some people have a very severe disease. None of these are accidental. All of them are affected by genetic factors. In this panel, the diagnosis of some diseases that may cause severe Covid-19 and may require follow-up and treatment in your future life will be
investigated. Some genetic diseases may cause severe infectious diseases or medical problems in the future.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• The whole community
• Those who have survived Covid-19 severely
• Those who have lost their family due to Covid-19
Number of genes to be examined
• 543
Evaluations that can be made as a result of the genes examined
• Immunological disease genes
• Coagulation mechanism genes
• Other genes that affect the course of the disease
4- OBESITY AND DIABETES RISK ASSESSMENT PACKAGE
Obesity and diabetes are one of the biggest health problems in the world. These two problems, which are seen together in a significant part of the patients, may be observed only as obesity or only diabetes in some patients. An important part of the diseases that cause these problems are genetic diseases and follow-up treatment algorithms differ. Patients who are not diagnosed correctly are more likely to encounter other problems in the long run. For this reason, it is necessary to investigate the causes of diabetes and obesity to ensure that the person receives the right treatments throughout his or her life for this long-term disease.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• Whole Society
• Those with obesity
• Those with diabetes
Number of genes to be examined
• 196
This package contains the genes identified by the NHS and some of the genes recommended by our center.
https://panelapp.genomicsengland.co.uk/
Evaluations that can be made as a result of the genes examined
• Obesity genes
• Diabetes risk genes
• MODY genes
• Monogenetic diabetes genes
5- FAMILIAL CANCER RISK ASSESSMENT PACKAGE
15% of people diagnosed with cancer have familial cancers. Treatment algorithms in familial cancers and the measures to be taken to protect the person from new cancers are different. In familial cancers, other members of the family are also at risk. For this reason, a familial cancer diagnosis is of great importance to direct treatment and protect other members of the family. All people diagnosed with cancer, whether they are actively undergoing cancer treatments or have had cancer in the past, should have these tests done. Apart from this, people with a family member with cancer should have these tests done to reduce their own cancer risk.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• Whole Society
• Especially individuals who have cancer in the family and themselves
Number of genes to be examined
• 257
This package contains the genes identified by the NHS and some of the genes recommended by our center.
https://panelapp.genomicsengland.co.uk/
Evaluations that can be made as a result of the genes examined
• Extended familial cancer risk
• Familial cancers affecting cancer treatment
6- ANEMIA GENETIC RISK ASSESSMENT PACKAGE
Anemia is a very common disease in society, especially in women. In addition, the carrier of thalassemia disease is quite common in our country. There are many types of anemia. If the exact cause of anemia cannot be determined, wrong and unnecessary treatments are applied throughout life. In addition, other diseases such as gallbladder problems and some cancer tendencies that may arise in the disease are overlooked and precautions cannot be taken. In addition, a group of patients who receive unnecessary treatments continues to be overlooked. For this reason, it is of great importance to investigate and understand the exact cause of the disease in anemia, as it is in every chronic disease.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• The whole community
• Individuals with anemia, especially in the family and in themselves
Number of genes to be examined
• 222
Evaluations that can be made as a result of the genes examined
• Genetic diseases that cause anemia
7- EMERGENCY SERVICE AND TRAUMA RISK ASSESSMENT PACKAGE
It is impossible to diagnose the emergency room conditions in a significant part of the patients who apply to the emergency services and suffer from trauma, but the genetic diseases that are necessary for the correct planning of the interventions made by the emergency services and even very important to reduce the life risks should be determined beforehand, and the person and their relatives should be referred to the emergency service specialists in case of emergency. It must be
given to be transmitted. Predetermining many risks such as bleeding tendencies, risk of kidney failure, risk of heart rhythm disorders, risk of stroke, and vascular occlusion is of great importance for the doctor to make correct plans in emergencies.
Test to be Applied
• Whole Exome Sequencing
Who Can Do?
• The whole community
Number of genes to be examined
• 2357
Evaluations that can be made as a result of the genes examined
• Illnesses that affect the emergency room or post-traumatic treatment and cause life-threatening diseases.
8- PREGNANT GENETIC RISK ASSESSMENT
During pregnancies, the risks that may occur to the mother and the baby due to some genetic diseases should be evaluated. If these risks are evaluated, necessary measures can be taken. In particular, if these tests are performed before pregnancy, measures can be taken to prevent the occurrence of the disease before pregnancy. Many of these risks are not diseases that can be detected with the examination and information to be obtained. They are diseases that can cause life-threatening risks. They are diseases that may cause physical or mental disabilities in the baby to be born or cause significant problems in its organs. In addition to the contents of the package, diseases that are common in the community and cause a high risk of pregnancies, which cannot be detected by other means, but which cannot be detected by exome analysis, are also included in this study.
Test to be Applied
• Whole Exome Sequencing
• DMD
• SMA
• 21 Hydroxylase deficiency
• Alpha Thalassemia
• Fragile-X
Who Can Do?
• Those who are planning a pregnancy
• Especially those who have consanguineous marriages
• Blood is taken from both spouses
Number of genes to be examined
• 4480
Evaluations that can be made as a result of the genes examined
• Evaluation of the pregnancy risks of the mother
• Disease risk assessment of the baby during pregnancy
9- VIP GENETIC RISK ASSESSMENT PACKAGE
Performing a comprehensive analysis of the person at the first stage and in the future, often without the need for additional analysis, in the diseases in which any genetic factor plays a role, with data analysis, provides a diagnosis or data that contributes to the diagnosis-treatment within hours and days.
In this panel;
• Diseases that have a personalized treatment and can be detected by this method
• Drug sensitivities and drug dose adjustment data detectable with this method
• HLA analyses that cause autoimmune disease risk
• It is possible to make analyses such as risk analyses related to inherited with more than one gene (polygenic diseases) within 1-2 years.
Test to be Applied
• Whole Genome Sequencing
• Mitochondrial DNA sequence analysis
Who Can Do?
• The whole community
Number of genes to be examined
• 10000+
Evaluations that can be made as a result of the genes examined
• All packages
• Clinical evaluation according to the individual's findings
• Drug dosing and risk analysis (pharmacogenetic analysis)
• Analysis of HLA-dependent diseases