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, 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? “ 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?”

You get a lot from genetic testing:

  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.
  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.
  3. Progeny planning — 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.
Rizici i ograničenja

Za većinu genetičkih testova rizici su veoma mali. Ovo se naročito odnosi na one testove za koje je dovoljan uzorak krvi ili bukalna sluzokoža. Metode prenatalne dijagnoze su sa relativno malim rizikom za gubitak ploda, s obzirom da zahtevaju uzimanje uzoraka iz amnionske tečnosti, horionskih resica ili nekih drugih fetalnih ćelija.

Kada je u pitanju genetičko testiranje, veći problem su emocionalne, socijalne ili finansijske posledice nakon dobijanja rezultata genetičkog testa. Ukoliko su za prisustvo genetičkih poremećaja rezultati pozitivni reakcije su različite, ali najčešće su to: ljutnja, bes, depresija, anksioznost, osećaj krivice. Upravo strah od rezultata je glavni faktor zbog čega neki ljudi izbegavaju genetičko testiranje.

Cena testa

Cena genetičkog testa je od desetine evra pa do nekoliko hiljada eura, a u zavisnosti od veličine gena koji se analizira, broja gena, broja i vrste mutacija za koje se vrše testiranja. Cena svakako zavisi i od toga da li je zbog preciznosti rezultata potrebno testirati još neke članove porodice/familije.

Genetic tests currently available

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:

First approach-typical diseases and tests

II PRISTUP – detaljniji pregled bolesti i testova po abecednom redosledu

First approachSecond and more detailed approach
Neuromuscular diseases

Muscular dystrophies

-different types

Spinal muscular atrophy

Myotonic dystrophy


-different types

Dilated cardiomyopathy

Familial amyloid polyneuropathy

Familial partial lipodystrophy

Mandibuloacral dysplasia

Myotonia congenita

Hutchinson-Gilfaard progeria syndrome

Werner’s syndrome

Restrictive dermopathy

Hyperkalemic periodic paralysis, type 1

Hereditary Hyperekplexia, 1

Gerstmann-Sträussler-Scheinker syndrome

Kennedy’s disease

Hangtington’s disease


different types

Neurological disorders

Different forms of mental retardation


-different types


Asperger’s syndrome

Fragile X chromosome

Rett syndrome

West’s syndrome

Early infantile spasms syndrome type 1

Lissencephaly X-linked, type 2

Coffin-Lowry syndrome

Metachromatic Leukodystrophy


Alexander’s disease

Canavan’s disease

Dandy-Walker malformation

Cortical dysplasia, complex, with other brain malformations 1


Intellectual disorders, developmental disorders, morphological dysmorphia

-different deletions


-duplications and the like

1p36 deletion syndrome

2p16 microdeletion

3p29 microdeletion

9q22.3 microdeletion

15q24 deletion syndrome

17q21 microdeletion

22q13 Phelan-Mcdermid

Cri du Chat syndrome, 5p15

DiGeorge syndrome, 22q11

DiGeorge syndrome, region 2 – 10p15

Langer-Giedion syndrome, 8q

Miller-Dieker syndrome, 17p

NF1 microdeletion syndrome

Prader-Willi / Angelman syndrome

MECP2 / Xq28 duplication / Rubinstein-Taybi syndrome

Smith-Magenis syndrome

Sotos syndrome, 5q35.3

Wagr syndrome

Williams-Beuren syndrome

Wolf-Hirschhorn syndrome, 4p16.3

TAR syndrome, 1q21.1

1q21.1 microdeletion syndrome (other than TAR)

3q29 microdeletion syndrome

CNTNAP2, 7q36.1

Implicated in schizophrenia, 12p11.3

15q13 microdeletion syndrome

PML gene, 15q24.1

16p11 microdeletion syndrome

17q12 microdeletion syndrome

TCF4 gene, 18q21.2

PAK7 gene, 20p12.2

Angelman’s syndrome

Prader-Willi Like Phenotype

Beckwith-Wiedemann / Silver-Russell syndrome

Silver-Russell syndrome – Uniparent disomy (UPD) 7

Uniparental Disomy (UPD) 14 – Malformation syndrome

Smith-Lemli-Opitz syndrome

Achalasia-Addisonianism-Alacrimia syndrome (Allgrove syndrome, Triple-A syndrome)

Cockayne syndrome – type A

Aicardi-Goutieres syndrome


Leigh syndrome

Noonan syndrome

Ichthyosis, H-linked

Neurofibromatosis, type 1

Neurofibromatosis, type 2

Juvenile Hyaline Fibromatosis

Gorlin’s syndrome

von Hippel-Lindau syndrome

Cortical dysplasia, complex, with other brain malformations 1

Encephalomyopathic with methylmalonic aciduria, Mitochondrial DNA depletion syndrome

CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy)

Gaucher disease

Niemann-Pick disease

Skeletal disorders



Hypoparathyroidism, type 1b

Osteoglophonic dysplasia

Trigonocephaly, nonsyndromic

Hypogonadotropic hypogonadism

Reserve Stevenson Cutis

Gyrata syndrome

Ladd syndrome

Seathre-Chotzen syndrome

Seathre-Chotzen syndrome

Pfeiffer syndrome

Kallman syndrome, type 2

Crouzon syndrome

Jackson-Weiss syndrome

Apert syndrome

Ostegenesis imperfect

Laeys-Dietz syndrome

Roberts syndrome

Frontonasal dysplasia, type I

Tetra-amelia, autosomal recessive


Spata 16

Y chromosome microdeletion

Synaptonemal protein complex 3

Kalman syndrome

Luteinizing hormone, β-polypeptide

Receptor for luteinizing hormone

Androgen receptor gene

Cystic Fibrosis Trans-membrane Regulator

46XY, sex reversal, Adrenocortical insufficiency, Spermatogenic failure, Cryptorchidism

Premature ovarian failure (POF) PANEL GENE

Ubiqitin Specific protease 9, Y chromosome

Gonadotropin-releasing hormone receptor

FSH, β-polypeptide

FSH receptor


Breast cancer

Peutz-Jeghers syndrome

Papillary renal cell carcinoma

Hereditary non-polyposis colorectal cancer (Lynch syndrome)

Familial adematous polyposis (APC) / Gardner syndrome

Thyroid follicular carcinoma

Juvenile polyposis

Microsatellite instability

KRAS and HRAS status in targeted colorectal cancer therapy

BRAF status in papillary thyroid carcinoma

BRAF status in melanoma and colorectal cancer

Multiple endocrine neoplasia, Type IIA / Sipple Syndrome / Hirschprung disease

Multiple endocrine neoplasia, Type I, MEN1

Genetic predispositions

Plasminogen activator inhibitor

Methylenetetrahydrofolate reductase

Methionine synthase reductase

Apolipoprotein E

Antithrombin III Deficiency

Antithrombin II Deficiency

Predisposition to endometriasis

Gluten intolerance / Ciliacia

Lactose intolerance

Gestational diabetes

Type 2 diabetes

Leiden factor


Angiotensin gene polymorphism

Factor XIII gene polymorphism

Vascular endothelial growth factor gene polymorphism

Gene thrombin-activated fibrinolysis inhibitor gene polymorphism

Annexin polymorphism 5

DNA test for predisposition to osteoporosis

Marfan syndrome

MODY (Maturity-onset Diabetes of the Young)

Other inherited disorders

Cystic fibrosis





Congenital adrenal hyperplasia

Primary hypoaldosteronism


Hemophilia A

Hemophilia B

von Willebrand factor

Hereditary spherocytosis

Subsequent hemorrhagic telangiectasia

Glycogenosis, type II (Rampe’s disease)

Glycogenosis, type 0

Glycogenosis, type 5

Leber’s hereditary optic neuropathy




Familial intraheptal cholestasis, type 3

Wilson’s disease

Gilbert’s syndrome

Glucose-6-phosphate dehydrogenase deficiency

Hereditary fructose intolerance

Ornithine transcarbamylase deficiency

Alpha-keto glutarate deficiency

Dihydrolipoamide deficiency dehydrogenesis

Citrullinemia, type II

Sulfite oxidase deficiency

Maple syrup urine disease, type Ia

Lowe syndrome

Pituitary hormone deficiency, combined 1

Cerebrotendinous xanthomatosis

Fabry disease

Pseudohypoparathyroidism I (a, b, c), Acromegaly

MeCune-Albright syndrome

Family Mediterranean fever

Hyper-IgD syndrome, Periodic Feaver, mevalonate kinase deficiency

Periodic fever-TNF-receptor-associated periodic syndrome

Autoimmune polyendocrinophaty syndrome, type I

Anauxetic dysplasia; Cortilage-hair hypoplasia

Familial hypomagnesa with hypercalcemia and nephrocalcinosis

Reis-Buckler / Thiel-Behnke syndrome

Alpha-1-antitrypsin deficiency

Charcot-Marie-Tooth disease

Andersen cardiodysrhythmic periodic paralysis

Dystonia-1, torsion

Dystonia -6

Dystonia -16

Dyskinesia, familial, with facial myokymia

X-linked lymphoproliferative syndrome (Duncan’s syndrome)

Oligodendroglioma-1p19q loss of heterozygosity

Michelis-Castrillo syndrome

Alagille syndrome

Barth’s syndrome

Pharmacological, rheumatologically and immunological analysis

Therapy for brain tumor

Glucocorticoid therapy

Thiopurine therapy

Toxicity with 5-FU therapy

5-FU therapy

Interferon Therapy (Interferon)

Individual dosing of Syntrome

Hepatotoxicity with Irinatecan therapy

Tomoxifen therapy

Cytochrome CYP3A4

Determination of the optimal dose of Colchicine, Paclitoxel, etc.

Individual dosing of Clopidogrel (Plavix)

Diet and allergy test

Nutrition and food test panel 2 / extended /

Immune package

Inhalation allergy test

Pediatric allergy test

Pediatric panel 2 / extended /

Rheumatoid arthritis

Bakhter’s disease (Alkylating spondylitis)

Behcet’s disease

Genetics and fitness

Diet and sports mode panel

Sports panel

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