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Tests of genetic predisposition
The tests of genetic predisposition are screening tests that address to healthy patients, preoccupied by their health condition. Under this category fall the following analyses: the predisposition test for 42 common diseases, the predisposition test for breast and ovarian hereditary cancer and the predisposition test of colorectal hereditary cancer.
1. Predisposition test for 42 common diseases
The predisposition test for 42 common diseases is a unique test in Romania through the fact that it analyzes simultaneously 307 genetic markers, which allow the evaluation of the genetic risk for the common diseases. The analyzed common diseases are: cardiovascular diseases, obesity, type II diabetes, different types of cancer, neurological and metabolic diseases.
The novelty of the test in Romania resides firstly in the technology used to analyze the genetic markers – we use the state of the art sequence technology from Illumina, which allows the simultaneous analysis of all genetic markers of interest at a high level of accuracy as compared to the alternative methods of analysis.
Moreover, to calculate the risks in the genetic predisposition approach, we use the results of the latest studies carried out by great international consortia which, through the results obtained and the suggested approach, will change the therapeutical attitude towards these conditions.
This test is carried out for everyone interested in finding out the genetic risks they stand and actively intervening to prevent them. The tests results are released in 22 days, and the results interpretation is performed even online, being carried out by the centre’s specialists.
The 42 common diseases are:
- Cardiovascular diseases
- Abdominal aortic aneurysm
- Cranial aneurysm
- Atrial fibrillation
- Myocardial infarction
- Arterial Hypertension
- Peripheral arterial disease
- Venous tromboembolism
- Diabetes and obesity
- Type I diabetes
- Type II diabetes
- Obesity
- Cancer
- Basal-cell carcinoma (skin cancer)
- Urinary bladder cancer
- Glioma (brain cancer)
- Chronic lymphocytic leukemia
- Colorectal cancer
- Lung cancer
- Pancreatic cancer
- Prostate cancer
- Testicular cancer
- Thyroid cancer
- Breast cancer
- Ovarian cancer
- Respiratory cancer
- Chronic obstructive pulmonary disease
- Asthmatic bronchitis
- Digestive and metabolic disorders
- Celiac disease
- Crohn’s disease
- Ulcerative colitis
- Lactose intolerance
- Hemocromatose
- Biliary Lithiasis
- Podogra
- Kidney diseases
- Chronic kidney diseases
- Kidney stone
- Neurological disorders
- Essential tremor
- Restless legs syndrome
- Multiple sclerosis
- Alzheimer disease
- Ophthalmological disorders
- Exfoliative glaucoma
- Age related macular degeneration
- Autoimmune diseases
- Psoriazis
- Systemic lupus erythematosus
- Rheumatoid arthritis
2. The predisposition test for colorectal cancer
- the mutations in the genes APC (MUTYH, MLH1, MSH2, MSH6, EPCAM, STK11) are analyzed, providing information about the risks to develop colorectal cancer for patients with such family history.
3. The predisposition test for hereditary breasts and ovarian cancer
– the mutations in the genes BRCA1, BRCA2, CHEK2, ATM, BRIP1 and PALB2 are analyzed. The test is recommended for patients that had cases of breasts and ovarian cancer in their family.
Oncogenetic tests
This is a category of tests carried out from tumor tissue, providing the oncology and hematology specialists with information necessary to choose the optimum therapy for oncologic patients. This category includes identification tests for the mutations in the solid tumors and hematological neoplasias.
Pharmacogenetics tests
Addressed to the oncologists, cardiologists and neurologists, the tests from this category are carried out to evaluate patient’s response to particular treatment and to choose treatment and optimal doses of medication.
Tests for the diagnosis of thrombophilias
These tests allow to identify the mutations responsible for the hereditary thrombophilias.
Tests for the identification of the mutations involved in the genetic disease
These tests allow the identification of mutations associated with the genetic diseases, such as the Coreea Huntington disease, myotonic dystrophy, Duchenne/Becker muscular dystrophy, type A and B hematophilia, etc.
Tests for prenatal diagnosis – allow the identifications of the chromosome aberrations for the prenatal diagnosis (the analysis of the chromosomes in the amniotic liquid, FISH rapid test from the amniotic liquid for the identification of the aneuploidies of the chromosomes X, Y, 21, 18, 13, etc.)
Infertility tests – are test that determine the genetic factors involved in infertility.
Paternity tests – tests through which several markers located at the level of chromosomes are analyzed to establish paternity.
Tests for diagnosis of infectious agents – are tests that allow to determine viremy of hepatitis B, C, D, of HBV mutations, resistence to treatment etc.