{"id":1807,"date":"2016-06-10T15:32:24","date_gmt":"2016-06-10T13:32:24","guid":{"rendered":"https:\/\/geneinfo.rs\/testovi\/"},"modified":"2021-12-10T17:32:19","modified_gmt":"2021-12-10T16:32:19","slug":"testing","status":"publish","type":"page","link":"https:\/\/geneinfo.rs\/en\/testing\/","title":{"rendered":"Testing"},"content":{"rendered":"

\"\"<\/p>\n

Genetic testing<\/strong><\/p>\n

Genetic testing is a sophisticated technique for diagnosing disease in humans, by directly analyzing the DNA.<\/p>\n

Why is it good to do a genetic test?<\/strong><\/p>\n

With the development of new diagnostic methods, especially DNA sequencing, the emergence of genetic tests is rapidly expanding for various diseases: psychiatric disorders, autism, autoimmune diseases, neuromuscular diseases, cerebral palsy, muscular dystrophies, malignancies, and even risk testing for cardiovascular diseases. People who are offered genetic tests often ask the standard question: “What do I get out of it? \u201c You get a genetic diagnosis. You get information about which gene has been altered and is causing the disease. The next question is, “What about that?”<\/p>\n

You get a lot from genetic testing:<\/strong><\/p>\n

    \n
  1. More effective therapy – if you know exactly which gene is damaged, then you also know which molecule has been changed and that is why the organism suffers the consequences. So you are entering the cause of the condition and not treating the consequences. Today, symptomatic consequences are mostly treated, not the cause of the disease. This provides an opportunity to pinpoint the cause and to adequately treat that cause. This gives the patient the right personal, personal, typical therapy because he has a unique genetic change. This makes the therapy much more successful and effective.<\/li>\n
  2. Disease prognosis – by seeing the real cause of the disease, you can more effectively see the course and development of the disease and plan your life accordingly. You simply get information about how the disease can develop in the future.<\/li>\n
  3. Progeny planning \u2014 in a significant number of cases, people with developmental disabilities plan their offspring. And what should they do, whenever possible. But what bothers and deters them is: What is the risk to the offspring? That’s right, if there is a genetic diagnosis, it is safe to plan offspring through prenatal diagnosis.<\/li>\n<\/ol>\n
    \n
    <\/span>Rizici i ograni\u010denja<\/b><\/div>
    \n

    Za ve\u0107inu geneti\u010dkih testova rizici su veoma mali. Ovo se naro\u010dito odnosi na one testove za koje je dovoljan uzorak krvi ili bukalna sluzoko\u017ea. Metode prenatalne dijagnoze su sa relativno malim rizikom za gubitak ploda, s obzirom da zahtevaju uzimanje uzoraka iz amnionske te\u010dnosti, horionskih resica ili nekih drugih fetalnih \u0107elija.<\/p>\n

    Kada je u pitanju geneti\u010dko testiranje, ve\u0107i problem su emocionalne, socijalne ili finansijske posledice nakon dobijanja rezultata geneti\u010dkog testa. Ukoliko su za prisustvo geneti\u010dkih poreme\u0107aja rezultati pozitivni reakcije su razli\u010dite, ali naj\u010de\u0161\u0107e su to: ljutnja, bes, depresija, anksioznost, ose\u0107aj krivice. Upravo strah od rezultata je glavni faktor zbog \u010dega neki ljudi izbegavaju geneti\u010dko testiranje.<\/p>\n<\/div><\/div>\n

    <\/span>Cena testa<\/b><\/div>
    \n

    Cena geneti\u010dkog testa je od desetine evra pa do nekoliko hiljada eura, a u zavisnosti od veli\u010dine gena koji se analizira, broja gena, broja i vrste mutacija za koje se vr\u0161e testiranja. Cena svakako zavisi i od toga da li je zbog preciznosti rezultata potrebno testirati jo\u0161 neke \u010dlanove porodice\/familije.<\/p>\n<\/div><\/div>\n<\/div>\n

    Genetic tests currently available<\/strong><\/p>\n

    Currently, according to GeneTest data, 79,007 genetic tests are available for 4,553 diseases, and new tests are added every day. Not one lab or clinic does all the tests. Below are the diseases and conditions for which genetic tests are currently available. And all the information about the test for a specific disease or condition that interests you can be found on the page “Your questions” of this site or through our social media outlets GENEINFO. Two approaches are presented below:<\/p>\n

    First approach-typical diseases and tests<\/strong><\/p>\n

    II PRISTUP\u00a0<\/strong>– detaljniji pregled bolesti i testova po abecednom redosledu<\/p>\n

    First approach<\/strong><\/span>Second and more detailed approach<\/strong><\/span><\/div>
    \n
    \n
    <\/span>Neuromuscular diseases<\/strong><\/div>
    \n

    Muscular dystrophies<\/strong><\/p>\n

    -different types<\/i><\/p>\n

    Spinal muscular atrophy<\/strong><\/p>\n

    Myotonic dystrophy<\/p>\n

    Ataxia<\/strong><\/p>\n

    -different types<\/i><\/p>\n

    Dilated cardiomyopathy<\/p>\n

    Familial amyloid polyneuropathy<\/p>\n

    Familial partial lipodystrophy<\/p>\n

    Mandibuloacral dysplasia<\/p>\n

    Myotonia congenita<\/p>\n

    Hutchinson-Gilfaard progeria syndrome<\/p>\n

    Werner\u2019s syndrome<\/p>\n

    Restrictive dermopathy<\/p>\n

    Hyperkalemic periodic paralysis, type 1<\/p>\n

    Hereditary Hyperekplexia, 1<\/p>\n

    Gerstmann-Str\u00e4ussler-Scheinker syndrome<\/p>\n

    Kennedy’s disease<\/p>\n

    Hangtington’s disease<\/p>\n

    SINO-CEREBRAL ATAXIA<\/strong><\/p>\n

    –different types<\/em><\/p>\n<\/div><\/div>\n

    <\/span>Neurological disorders<\/em><\/strong><\/div>
    \n

    Different forms of mental retardation<\/strong><\/p>\n

    Epilepsy<\/strong><\/p>\n

    -different types<\/i><\/p>\n

    Autism<\/strong><\/p>\n

    Asperger’s syndrome<\/p>\n

    Fragile X chromosome<\/p>\n

    Rett syndrome<\/p>\n

    West’s syndrome<\/p>\n

    Early infantile spasms syndrome type 1<\/p>\n

    Lissencephaly X-linked, type 2<\/p>\n

    Coffin-Lowry syndrome<\/p>\n

    Metachromatic Leukodystrophy<\/p>\n

    Adrenoleukodystrophy<\/p>\n

    Alexander’s disease<\/p>\n

    Canavan’s disease<\/p>\n

    Dandy-Walker malformation<\/p>\n

    Cortical dysplasia, complex, with other brain malformations 1<\/p>\n

    Schizophrenia<\/strong><\/p>\n

    Intellectual disorders, developmental disorders, morphological dysmorphia<\/strong><\/p>\n

    -different deletions<\/p>\n

    -microdeletions<\/p>\n

    -duplications and the like<\/p>\n

    1p36 deletion syndrome<\/p>\n

    2p16 microdeletion<\/p>\n

    3p29 microdeletion<\/p>\n

    9q22.3 microdeletion<\/p>\n

    15q24 deletion syndrome<\/p>\n

    17q21 microdeletion<\/p>\n

    22q13 Phelan-Mcdermid<\/p>\n

    Cri du Chat syndrome, 5p15<\/p>\n

    DiGeorge syndrome, 22q11<\/p>\n

    DiGeorge syndrome, region 2 – 10p15<\/p>\n

    Langer-Giedion syndrome, 8q<\/p>\n

    Miller-Dieker syndrome, 17p<\/p>\n

    NF1 microdeletion syndrome<\/p>\n

    Prader-Willi \/ Angelman syndrome<\/p>\n

    MECP2 \/ Xq28 duplication \/ Rubinstein-Taybi syndrome<\/p>\n

    Smith-Magenis syndrome<\/p>\n

    Sotos syndrome, 5q35.3<\/p>\n

    Wagr syndrome<\/p>\n

    Williams-Beuren syndrome<\/p>\n

    Wolf-Hirschhorn syndrome, 4p16.3<\/p>\n

    TAR syndrome, 1q21.1<\/p>\n

    1q21.1 microdeletion syndrome (other than TAR)<\/p>\n

    3q29 microdeletion syndrome<\/p>\n

    CNTNAP2, 7q36.1<\/p>\n

    Implicated in schizophrenia, 12p11.3<\/p>\n

    15q13 microdeletion syndrome<\/p>\n

    PML gene, 15q24.1<\/p>\n

    16p11 microdeletion syndrome<\/p>\n

    17q12 microdeletion syndrome<\/p>\n

    TCF4 gene, 18q21.2<\/p>\n

    PAK7 gene, 20p12.2<\/p>\n

    Angelman’s syndrome<\/p>\n

    Prader-Willi Like Phenotype<\/p>\n

    Beckwith-Wiedemann \/ Silver-Russell syndrome<\/p>\n

    Silver-Russell syndrome – Uniparent disomy (UPD) 7<\/p>\n

    Uniparental Disomy (UPD) 14 – Malformation syndrome<\/p>\n

    Smith-Lemli-Opitz syndrome<\/p>\n

    Achalasia-Addisonianism-Alacrimia syndrome (Allgrove syndrome, Triple-A syndrome)<\/p>\n

    Cockayne syndrome – type A<\/p>\n

    Aicardi-Goutieres syndrome<\/p>\n

    Leukoencephalopathy<\/p>\n

    Leigh syndrome<\/p>\n

    Noonan syndrome<\/p>\n

    Ichthyosis, H-linked<\/p>\n

    Neurofibromatosis, type 1<\/p>\n

    Neurofibromatosis, type 2<\/p>\n

    Juvenile Hyaline Fibromatosis<\/p>\n

    Gorlin’s syndrome<\/p>\n

    von Hippel-Lindau syndrome<\/p>\n

    Cortical dysplasia, complex, with other brain malformations 1<\/p>\n

    Encephalomyopathic with methylmalonic aciduria, Mitochondrial DNA depletion syndrome<\/p>\n

    CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy)<\/p>\n

    Gaucher disease<\/p>\n

    Niemann-Pick disease<\/p>\n<\/div><\/div>\n

    <\/span>Skeletal disorders<\/strong><\/div>
    \n

    Achondroplasia<\/p>\n

    Hypochondroplasia<\/p>\n

    Hypoparathyroidism, type 1b<\/p>\n

    Osteoglophonic dysplasia<\/p>\n

    Trigonocephaly, nonsyndromic<\/p>\n

    Hypogonadotropic hypogonadism<\/p>\n

    Reserve Stevenson Cutis<\/p>\n

    Gyrata syndrome<\/p>\n

    Ladd syndrome<\/p>\n

    Seathre-Chotzen syndrome<\/p>\n

    Seathre-Chotzen syndrome<\/p>\n

    Pfeiffer syndrome<\/p>\n

    Kallman syndrome, type 2<\/p>\n

    Crouzon syndrome<\/p>\n

    Jackson-Weiss syndrome<\/p>\n

    Apert syndrome<\/p>\n

    Ostegenesis imperfect<\/p>\n

    Laeys-Dietz syndrome<\/p>\n

    Roberts syndrome<\/p>\n

    Frontonasal dysplasia, type I<\/p>\n

    Tetra-amelia, autosomal recessive<\/p>\n<\/div><\/div>\n

    <\/span>Infertility<\/strong><\/div>
    \n

    Spata 16<\/p>\n

    Y chromosome microdeletion<\/p>\n

    Synaptonemal protein complex 3<\/p>\n

    Kalman syndrome<\/p>\n

    Luteinizing hormone, \u03b2-polypeptide<\/p>\n

    Receptor for luteinizing hormone<\/p>\n

    Androgen receptor gene<\/p>\n

    Cystic Fibrosis Trans-membrane Regulator<\/p>\n

    46XY, sex reversal, Adrenocortical insufficiency, Spermatogenic failure, Cryptorchidism<\/p>\n

    Premature ovarian failure (POF) PANEL GENE<\/p>\n

    Ubiqitin Specific protease 9, Y chromosome<\/p>\n

    Gonadotropin-releasing hormone receptor<\/p>\n

    FSH, \u03b2-polypeptide<\/p>\n

    FSH receptor<\/p>\n<\/div><\/div>\n

    <\/span>Cancer<\/strong><\/div>
    \n

    Breast cancer<\/p>\n

    Peutz-Jeghers syndrome<\/p>\n

    Papillary renal cell carcinoma<\/p>\n

    Hereditary non-polyposis colorectal cancer (Lynch syndrome)<\/p>\n

    Familial adematous polyposis (APC) \/ Gardner syndrome<\/p>\n

    Thyroid follicular carcinoma<\/p>\n

    Juvenile polyposis<\/p>\n

    Microsatellite instability<\/p>\n

    KRAS and HRAS status in targeted colorectal cancer therapy<\/p>\n

    BRAF status in papillary thyroid carcinoma<\/p>\n

    BRAF status in melanoma and colorectal cancer<\/p>\n

    Multiple endocrine neoplasia, Type IIA \/ Sipple Syndrome \/ Hirschprung disease<\/p>\n

    Multiple endocrine neoplasia, Type I, MEN1<\/p>\n<\/div><\/div>\n

    <\/span>Genetic predispositions<\/strong><\/div>
    \n

    Plasminogen activator inhibitor<\/p>\n

    Methylenetetrahydrofolate reductase<\/p>\n

    Methionine synthase reductase<\/p>\n

    Apolipoprotein E<\/p>\n

    Antithrombin III Deficiency<\/p>\n

    Antithrombin II Deficiency<\/p>\n

    Predisposition to endometriasis<\/p>\n

    Gluten intolerance \/ Ciliacia<\/p>\n

    Lactose intolerance<\/p>\n

    Gestational diabetes<\/p>\n

    Type 2 diabetes<\/p>\n

    Leiden factor<\/p>\n

    Prothrombin<\/p>\n

    Angiotensin gene polymorphism<\/p>\n

    Factor XIII gene polymorphism<\/p>\n

    Vascular endothelial growth factor gene polymorphism<\/p>\n

    Gene thrombin-activated fibrinolysis inhibitor gene polymorphism<\/p>\n

    Annexin polymorphism 5<\/p>\n

    DNA test for predisposition to osteoporosis<\/p>\n

    Marfan syndrome<\/p>\n

    MODY (Maturity-onset Diabetes of the Young)<\/p>\n<\/div><\/div>\n

    <\/span>Other inherited disorders<\/strong><\/div>
    \n

    Cystic fibrosis<\/strong><\/p>\n

    Phenylketonuria<\/p>\n

    Galactosemia<\/p>\n

    Hyperholsteremia<\/strong><\/p>\n

    Hypertriglyceridemia<\/p>\n

    Congenital adrenal hyperplasia<\/p>\n

    Primary hypoaldosteronism<\/p>\n

    \u03b2-thalassemia<\/p>\n

    Hemophilia A<\/p>\n

    Hemophilia B<\/p>\n

    von Willebrand factor<\/p>\n

    Hereditary spherocytosis<\/p>\n

    Subsequent hemorrhagic telangiectasia<\/p>\n

    Glycogenosis, type II (Rampe’s disease)<\/p>\n

    Glycogenosis, type 0<\/p>\n

    Glycogenosis, type 5<\/p>\n

    Leber’s hereditary optic neuropathy<\/p>\n

    Deafness<\/strong><\/p>\n

    Dystonia<\/p>\n

    Hemachromatosis<\/p>\n

    Familial intraheptal cholestasis, type 3<\/p>\n

    Wilson’s disease<\/p>\n

    Gilbert’s syndrome<\/p>\n

    Glucose-6-phosphate dehydrogenase deficiency<\/p>\n

    Hereditary fructose intolerance<\/p>\n

    Ornithine transcarbamylase deficiency<\/p>\n

    Alpha-keto glutarate deficiency<\/p>\n

    Dihydrolipoamide deficiency dehydrogenesis<\/p>\n

    Citrullinemia, type II<\/p>\n

    Sulfite oxidase deficiency<\/p>\n

    Maple syrup urine disease, type Ia<\/p>\n

    Lowe syndrome<\/p>\n

    Pituitary hormone deficiency, combined 1<\/p>\n

    Cerebrotendinous xanthomatosis<\/p>\n

    Fabry disease<\/p>\n

    Pseudohypoparathyroidism I (a, b, c), Acromegaly<\/p>\n

    MeCune-Albright syndrome<\/p>\n

    Family Mediterranean fever<\/p>\n

    Hyper-IgD syndrome, Periodic Feaver, mevalonate kinase deficiency<\/p>\n

    Periodic fever-TNF-receptor-associated periodic syndrome<\/p>\n

    Autoimmune polyendocrinophaty syndrome, type I<\/p>\n

    Anauxetic dysplasia; Cortilage-hair hypoplasia<\/p>\n

    Familial hypomagnesa with hypercalcemia and nephrocalcinosis<\/p>\n

    Reis-Buckler \/ Thiel-Behnke syndrome<\/p>\n

    Alpha-1-antitrypsin deficiency<\/p>\n

    Charcot-Marie-Tooth disease<\/p>\n

    Andersen cardiodysrhythmic periodic paralysis<\/p>\n

    Dystonia-1, torsion<\/p>\n

    Dystonia -6<\/p>\n

    Dystonia -16<\/p>\n

    Dyskinesia, familial, with facial myokymia<\/p>\n

    X-linked lymphoproliferative syndrome (Duncan’s syndrome)<\/p>\n

    Oligodendroglioma-1p19q loss of heterozygosity<\/p>\n

    Michelis-Castrillo syndrome<\/p>\n

    Alagille syndrome<\/p>\n

    Barth’s syndrome<\/p>\n<\/div><\/div>\n

    <\/span>Pharmacological, rheumatologically and immunological analysis<\/strong><\/div>
    \n

    Therapy for brain tumor<\/p>\n

    Glucocorticoid therapy<\/p>\n

    Thiopurine therapy<\/p>\n

    Toxicity with 5-FU therapy<\/p>\n

    5-FU therapy<\/p>\n

    Interferon Therapy (Interferon)<\/p>\n

    Individual dosing of Syntrome<\/p>\n

    Hepatotoxicity with Irinatecan therapy<\/p>\n

    Tomoxifen therapy<\/p>\n

    Cytochrome CYP3A4<\/p>\n

    Determination of the optimal dose of Colchicine, Paclitoxel, etc.<\/p>\n

    Individual dosing of Clopidogrel (Plavix)<\/p>\n

    Diet and allergy test<\/p>\n

    Nutrition and food test panel 2 \/ extended \/<\/p>\n

    Immune package<\/p>\n

    Inhalation allergy test<\/p>\n

    Pediatric allergy test<\/p>\n

    Pediatric panel 2 \/ extended \/<\/p>\n

    Rheumatoid arthritis<\/p>\n

    Bakhter’s disease (Alkylating spondylitis)<\/p>\n

    Behcet’s disease<\/p>\n<\/div><\/div>\n

    <\/span>Genetics and fitness<\/strong><\/div>
    \n

    Diet and sports mode panel<\/p>\n

    Sports panel<\/p>\n<\/div><\/div>\n<\/div>\n<\/b><\/p>\n

    <\/div>\n

    It will be processed and published soon, and you can temporarily view the link to GeneTests<\/strong><\/a><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"

    Genetic testing Genetic testing is a sophisticated technique for diagnosing disease in humans, by directly analyzing the DNA. Why is it good to do a genetic test? With the development of new diagnostic methods, especially DNA sequencing, the emergence of genetic tests is rapidly expanding for various diseases: psychiatric disorders, autism, autoimmune diseases, neuromuscular diseases, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-blog.php","meta":[],"_links":{"self":[{"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/pages\/1807"}],"collection":[{"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/comments?post=1807"}],"version-history":[{"count":3,"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/pages\/1807\/revisions"}],"predecessor-version":[{"id":1909,"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/pages\/1807\/revisions\/1909"}],"wp:attachment":[{"href":"https:\/\/geneinfo.rs\/en\/wp-json\/wp\/v2\/media?parent=1807"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}