Test Types

Genetic Tests

The genetic tests can provide information about an individual's genes and chromosomes. The available types of tests include:

Diagnostic tests

Diagnostic tests are used for the identification or rejection of particular genetic or chromosomal defects. In many cases, diagnostic testing is useful for confirmation of suspective diagnosis, when distinctive clinical symptoms are present. The diagnostic testing may be performed before birth or at any age after birth and the results may influence the clinical behavior (or lifestyle) of the patient. 

Laboratory of Genomic Diagnostics offers the following diagnostic tests: 

  • Hereditary Breast and Ovarian Cancer (HBOC) - Test 1 / 2 / 3 / 4 / 5 / 6 / 7
  • Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome) - Test 8 / 9 / 10 / 11 / 12 / 13 / 14
  • Hereditary Gastrointestinal Tumors - Test 15
  • Familial adenomatous polyposis (FAP) - Test 16 / 17 / 18 / 19
  • Hirschsprung's disease - Test 20
  • Multiple Endocrine Neoplasia (MEN) - Test 21 / 22 / 23 / 24
  • Li-Fraumeni syndrome - Test 25 / 26
  • Familial prostate cancer - Test 27
  • Hematologic Oncologic Diseases - Test 28
  • Hereditary Paraganglioma / Pheochromocytoma / PGL / PCC syndrome - Test 29
  • Hereditary syndromes associated with tumors of the CNS, PNS - Test 30
  • RASopathies, Genetic syndromes resulting of mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway - Test 31
  • Мedulloblastoma - Test 32
  • Sarcoma - Test 33
  • Hereditary Neuroblastoma - Test 34
  • Neurofibromatosis type 1 - Test 35 / 36
  • Neurofibromatosis type 2 - Test 37
  • Epilepsy with febrile seizures, GEFS + and Dravet syndrome - Test 38 / 39 / 40
  • Epilepsy with benign neonatal and neonatal-infantile seizures and early onset epileptic encephalopathy - Test 41 / 42 / 43
  • Childhood absence epilepsy and GLUT1 deficiency - Test 44 / 45 / 46
  • Epileptic encephalopathies - Test 47
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) - Test 48
  • Epilepsy and epileptic syndromes - extended panel - Test 49
  • Мigraine - Test 50
  • Syndromic intellectual deficit and neurodevelopmental disorders - Test 51
  • Autism - Test 52
  • Hereditary spastic paraplegia - Test 53 / 54
  • Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia - Test 55
  • Hereditary Motor-Sensory Neuropathies - Test 56
  • Hereditary Ataxias - Test 57
  • Cerebellar hypoplasia - Test 58
  • Arthrogryposis - Test 59
  • Neuromuscular diseases - Test 60
  • Alzheimer's disease - Test 61 / 62
  • Parkinson's disease - Test 63
  • Dementia - Test 64
  • Frontotemporal degeneration - Test 65
  • Amyotrophic lateral sclerosis - Test 66
  • Amyotrophic lateral sclerosis/ Frontotemporal degeneration - Test 67
  • Motor disorders - Test 68
  • Leukodystrophy with childhood-onset - Test 69
  • Leukodystrophy with brain calcifications - Test 70
  • Leukodystrophy with late-onset - Test 71
  • Congenital hypotension - Test 72
  • Macular degeneration - Test 73 / 74 / 75 / 76 / 77
  • Glaucoma - Test 78 / 79 / 80 / 81
  • Cone-rod retinal degeneration - Test 82 / 83 / 84 / 85
  • Leber hereditary optic neuropathy - Test 86 / 87 / 88 / 89
  • Retinal pigment degeneration - Test 90 / 91 / 92 / 93 / 94 / 95 / 96 / 97 / 98
  • Usher syndrome type 2 - Test 99 / 100 / 101
  • Bardet-Biedl syndrome - Test 102
  • Congenital stationary night blindness - Test 103
  • Retinoschisis - Test 104
  • Retinoblastoma - Test 105 / 106
  • Cataract - Test 107
  • Hereditary and sporadic nonsyndromic neurosensory hearing loss - Test 108 / 109 / 110 / 111
  • Sensorineural hearing loss and Wolfram syndrome type 1 - Test 112
  • Cortico-resistant nephrotic syndrome - Test 113 / 114
  • Congenital anomalies of the urinary system - Test 115 / 116 / 117
  • UMOD-associated nephropathy - Test 118
  • Ciliopathies - Test 119
  • Endocrine diseases - Test 120
  • Congenital hypopituitarism - Test 121
  • Congenital hypothyroidism - Test 122 / 123 / 124
  • Isolated growth hormone deficiency - Test 125 / 126
  • Congenital adrenal hyperplasia (21 hydroxylase deficiency) - Test 127
  • Maturity-onset diabetes of the young (MODY) - Test 128 / 129 / 130
  • Cardiological diseases - Test 131
  • Mitochondrial diseases - Test 132 / 133
  • Connective tissue diseases - Test 134
  • Marfan syndrome and Marfan-like diseases - Test 135
  • Skeletal dysplasias - Test 136
  • Liver diseases - Test 137
  • Immune diseases - Test 138
  • Hematological diseases - Test 139
  • Syndromic and non-syndromic diseases with dermatological symptoms - Test 140
  • Reproductive panel - women - Test 141
  • Reproductive panel - men - Test 142
  • Metabolic diseases - Test 143
  • Gorlin Goltz syndrome - Test 144 / 145 / 146
  • Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 150 / 151
  • Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 152 / 153 / 154
  • Diagnostic marker for the presence of DICER1 syndrome - Test 155
  • Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 156 / 157 / 158 / 159
  • Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 160
  • Diagnostic markers in brain, rhabdoid, solid and other tumors - Test 174 / 175
  • Extended gene panel analysis for familial oncological diseases and interpretation - Test 178
  • Analysis of a panel of genes associated with targeted therapy in solid tumors and interpretation - Test 179
  • Whole Exome Sequencing (WES) and interpretation of the clinical exome - Test 180
  • Whole Exome Sequencing (WES) without analysis and interpretation - Test 181
  • Microdeletion / microduplication syndromes - Test 184
  • Neurodevelopmental disorders/Autism spectrum disorders - Test 185
  • Prader Willi/Angelman syndromes - Test 188
  • Russell-Silver/Beckwith-Wiedemann syndromes - Test 189
  • Angelman syndromes - Test 190
  • Microarray analysis with reagents provided by the Ministry of Health - Test 209
  • Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health - Test 210
  • CYP21A2 gene analysis - Test 211
  • Neurofibromatosis type 1 - Test 212
  • Neurofibromatosis type 2 - Test 213
  • Growth deficiency - Test 214
  • Chromosomal copy number changes in childhood solid tumors (Neublastoma / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor) with reagents provided by the Ministry of Health - Test 215
Carrier genetic testing

Carrier genetic tests are based on the presence of familial history of a particular disease with later onset (e.g. oncological diseases). These kinds of tests are capable to detect heterozygous carriers in a family, which is at high risk of recessive disease. When there is identified pathogenic mutation in an individual, carrier genetic testing is performed to establish segregation/inheritance of the mutation in all relatives with suspected disease.

Laboratory of Genomic Diagnostics offers the following carrier genetic tests:

  • Whole Exome Sequencing (WES) and interpretation of the clinical exome - Test 180
  • Whole Exome Sequencing (WES) without analysis and interpretation - Test 181
  • Carrier testing in a family with a known genetic cause of hereditary disease - Test 182
  • Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS) - Test 183
  • Congenital anomalies and malformative syndromes / miscarriages - Test 186
  • Confirmaton analysis / segregation of aberrations detected by microarray analysis - Test 187
  • Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health - Test 210
Prenatal testing

Prenatal genetic testing is used for detection of point mutations or chromosomal aberrations of the fetus genome before birth. These types of tests are applicable if there is a high risk for development of syndromic disease due to genetic or chromosomal abnormality. In many cases, this helps the couple to make an appropriate decisions concerning the course of pregnancy. However, not all possible hereditary disorders and birth defects can be identified with these tests.

Laboratory of Genomic Diagnostics offers the following prenatal genetic tests: 

  • Microdeletion / microduplication syndromes - Test 184
  • Neurodevelopmental disorders/Autism spectrum disorders - Test 185
  • Congenital anomalies and malformative syndromes / miscarriages - Test 186
  • Confirmaton analysis / segregation of aberrations detected by microarray analysis - Test 187
  • Microarray analysis with reagents provided by the Ministry of Health - Test 209
Prognostic tests

English Text

  • Reproductive panel - women - Test 141
  • Reproductive panel - men - Test 142
  • Prognostic markers in tumors of the central nervous system - Test 147 / 148 / 149
  • Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 150 / 151
  • Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 152 / 153 / 154
Predictive tests

Predictive biomarkers are associated with the targeted therapy of a patient and give information about the specific response of particular patient to one or several treatments of the disease.

LGD offers the following predictive tests: 

  • Reproductive panel - women - Test 141
  • Reproductive panel - men - Test 142
  • Prognostic markers in tumors of the central nervous system - Test 147 / 148 / 149
  • Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 150 / 151
  • Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 156 / 157 / 158 / 159
  • Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 160
  • Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/ - Test 161
  • Chronic lymphocytic leukemia / CLL / predictive marker for targeted therapy - Test 162
  • Carrier Analysis of Variants Associated with Reproductive Disadvantages - Test 176 / 177
  • Analysis of a panel of genes associated with targeted therapy in solid tumors and interpretation - Test 179
Other tests offered by LGD
  • Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome) - Test 163
  • Optimization of platelet antiplatelet therapy clopidogrel (Plavix) - Test 164
  • Optimization of methotrexate therapy - Test 165
  • Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis - Test 166
  • Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine - Test 167
  • Minimal residual disease in patients with neuroblastoma - Test 168
  • Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine) - Test 169 / 170
  • Slow metabolizers by CYP2C9 - Test 171
  • Slow metabolizers by CYP2C19 - Test 172
  • Slow metabolizers by CYP2D6 - Test 173
  • DNA banking - Test 191 / 192 / 193 / 194 / 195 / 196
  • Sequencing at the customer's request - Test 197 / 198 / 199
  • Fragment analysis at the customer's request - Test 200 / 201 / 202
  • Microarray scanning at the customer's request - Test 203
  • Microarray scanning and bioinformatics analysis at the customer's request - Test 204
  • Comprehensive bioinformatics analysis and interpretation of NGS data - Test 205 / 206
  • Genetic counseling, Professor - Test 207
  • Genetic counseling, Medical doctor - Test 208