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
- Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome) - Test 5 / 6 / 7 / 8 / 9 / 10 / 11
- Hereditary Gastrointestinal Tumors - Test 12
- Familial adenomatous polyposis (FAP) - Test 13 / 14 / 15 / 16
- Hirschsprung's disease - Test 17
- Multiple Endocrine Neoplasia (MEN) - Test 18 / 19 / 20 / 21
- Li-Fraumeni syndrome - Test 22 / 23
- Familial prostate cancer - Test 24
- Familial pancreatic cancer - Test 25
- Фамилен рак на кожата - Test 26
- Наследствени онкологични заболявания - Test 27
- Hereditary Paraganglioma / Pheochromocytoma / PGL / PCC syndrome - Test 28
- Hereditary syndromes associated with tumors of the CNS, PNS - Test 29
- RASopathies, Genetic syndromes resulting of mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway - Test 30
- Hereditary Neuroblastoma - Test 31
- Neurofibromatosis type 1 - Test 32 / 33
- Neurofibromatosis type 2 - Test 34
- Gorlin Goltz syndrome - Test 35 / 36 / 37
- Tuberous sclerosis - Test 38
- Epilepsy with febrile seizures, GEFS + and Dravet syndrome - Test 39 / 40 / 41
- Epilepsy with benign neonatal and neonatal-infantile seizures and early onset epileptic encephalopathy - Test 42 / 43 / 44
- Childhood absence epilepsy and GLUT1 deficiency - Test 45 / 46 / 47
- Epileptic encephalopathies - Test 48
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) - Test 49
- Epilepsy and epileptic syndromes - extended panel - Test 50
- Мigraine - Test 51
- Neuromuscular diseases - Test 52
- Congenital hypotension - Test 53
- Hereditary spastic paraplegia - Test 54 / 55
- Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia - Test 56
- Hereditary Motor-Sensory Neuropathies - Test 57
- Hereditary Ataxias - Test 58
- Cerebellar hypoplasia - Test 59
- Syndromic intellectual deficit and neurodevelopmental disorders - Test 60
- Autism - Test 61
- Developmental delay, intellectual disability, and/or congenital anomalies - Test 62
- Known microdeletion/microduplication syndromes - Test 63
- Alzheimer's disease - Test 64 / 65
- Parkinson's disease - Test 66
- Dementia - Test 67
- Frontotemporal degeneration - Test 68
- Amyotrophic lateral sclerosis - Test 69
- Amyotrophic lateral sclerosis/ Frontotemporal degeneration - Test 70
- Motor disorders - Test 71
- Leukodystrophy with childhood-onset - Test 72
- Leukodystrophy with brain calcifications - Test 73
- Leukodystrophy with late-onset - Test 74
- Macular degeneration - Test 75 / 76 / 77 / 78 / 79
- Glaucoma - Test 80 / 81 / 82 / 83
- Cone-rod retinal degeneration - Test 84 / 85 / 86 / 87
- Leber hereditary optic neuropathy - Test 88 / 89 / 90 / 91
- Retinal pigment degeneration - Test 92 / 93 / 94 / 95 / 96 / 97 / 98 / 99 / 100
- Usher syndrome type 2 - Test 101 / 102 / 103
- Bardet-Biedl syndrome - Test 104
- Congenital stationary night blindness - Test 105
- Retinoschisis - Test 106
- Retinoblastoma - Test 107 / 108
- Cataract - Test 109
- Hereditary and sporadic nonsyndromic neurosensory hearing loss - Test 110 / 111 / 112 / 113
- Sensorineural hearing loss and Wolfram syndrome type 1 - Test 114
- Cortico-resistant nephrotic syndrome - Test 115 / 116
- Congenital anomalies of the urinary system - Test 117 / 118 / 119
- UMOD-associated nephropathy - Test 120
- Ciliopathies - Test 121
- Hereditary kidney diseases - Test 122
- Endocrine diseases - Test 123
- Congenital hypopituitarism - Test 124
- Congenital hypothyroidism - Test 125 / 126 / 127
- Isolated growth hormone deficiency - Test 128 / 129
- Maturity-onset diabetes of the young (MODY) - Test 130 / 131 / 132
- Cardiomyopathies and arrhythmias - Test 133
- Familial hypercholesterolemia - Test 134
- Familial hypertriglyceridemia - Test 135
- Familial lipodystrophy - Test 136
- Familial disorders associated with an increased risk of cerebrovascular events (stroke) - Test 137
- Ehlers–Danlos syndrome and related disorders - Test 138
- Familial hemorrhagic telangiectasia and vascular malformations - Test 139
- Familial heart diseases - Test 140
- Mitochondrial diseases - Test 141 / 142 / 143
- Connective tissue diseases - Test 144
- Marfan syndrome and Marfan-like diseases - Test 145 / 146
- Skeletal dysplasias - Test 147
- Multiple congenital malformation disorders - Test 148
- Arthrogryposis - Test 149
- Monogenic inflammatory bowel diseases (IBD) with early onset (before 6 years of age) - Test 150
- Familial pancreatitis - Test 151
- Hirschsprung disease - Test 152
- Liver diseases - Test 153
- Immune diseases - Test 154
- Hematological diseases - Test 155
- Syndromic and non-syndromic diseases with dermatological symptoms - Test 156
- Reproductive panel - women - Test 158
- Reproductive panel - men - Test 159
- Carrier screening for heterozygous carriers of recessive diseases in couples - Test 160
- Metabolic diseases - Test 157
- BRCA-related expanded panel for assessment of familial risk and therapy selection - Test 163
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 173 / 174
- Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 175 / 176 / 177
- Diagnostic marker for the presence of DICER1 syndrome - Test 178
- Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 179 / 180 / 181 / 182
- Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 183
- Diagnostic markers in brain, rhabdoid, solid and other tumors - Test 198 / 199
- Extended gene panel analysis for familial oncological diseases and interpretation - Test 200
- Whole Exome Sequencing (WES) and interpretation of the clinical exome - Test 201
- Whole Exome Sequencing (WES) without analysis and interpretation - Test 202
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 205
- Confirmatory analysis / segregation of aberrations identified by microarray analysis and NGS - Test 206
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 207
- Microdeletion / microduplication syndromes - Test 208
- Neurodevelopmental disorders/Autism spectrum disorders - Test 209
- Prader Willi/Angelman syndromes - Test 211
- Russell-Silver/Beckwith-Wiedemann syndromes - Test 212
- Angelman syndromes - Test 213
- Uniparental disomy testing - Test 214
- Microarray analysis with reagents provided by the Ministry of Health - Test 233
- Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health - Test 234
- Whole genome sequencing (WGS) with analysis and interpretation - Test 235
- Congenital adrenal hyperplasia (21 hydroxylase deficiency) - Test 236
- Neurofibromatosis type 1 - Test 237
- Neurofibromatosis type 2 - Test 238
- Growth deficiency - Test 239
- 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 240
- Pediatric solid tumors - Test 241
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of up to 100 genes - Test 242
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 100 to 200 genes - Test 243
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 200 to 500 genes - Test 244
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of over 500 genes - Test 245
- Bioinformatic analysis and interpretation of whole genome sequencing (WGS) data - Test 246 / 247
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 201
- Whole Exome Sequencing (WES) without analysis and interpretation - Test 202
- Carrier testing in a family with a known genetic cause of hereditary disease - Test 203
- Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS) - Test 204
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 207
- Congenital anomalies and malformative syndromes / miscarriages - 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 208
- Neurodevelopmental disorders/Autism spectrum disorders - Test 209
- Congenital anomalies and malformative syndromes / miscarriages - Test 210
- Uniparental disomy testing - Test 214
- Microarray analysis with reagents provided by the Ministry of Health - Test 233
Prognostic tests
English Text
- Reproductive panel - women - Test 158
- Reproductive panel - men - Test 159
- BRCA-related expanded panel for assessment of familial risk and therapy selection - Test 163
- Prognostic markers in tumors of the central nervous system - Test 170 / 171 / 172
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 173 / 174
- Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 175 / 176 / 177
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 158
- Reproductive panel - men - Test 159
- Prognostic markers in tumors of the central nervous system - Test 170 / 171 / 172
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 173 / 174
- Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 179 / 180 / 181 / 182
- Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 183
- Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/ - Test 184 / 185
- Chronic lymphocytic leukemia / CLL / predictive marker for targeted therapy - Test 186
- Carrier Analysis of Variants Associated with Reproductive Disadvantages - Test 161 / 162
Other tests offered by LGD
- Therapy selection in breast cancer - Test 164 / 165
- Therapy selection in prostate cancer - Test 166
- Therapy selection for solid tumors associated with homologous recombination deficiency (breast, ovarian, prostate, and pancreatic cancers) - Test 167
- Comprehensive genomic profiling (CGP) for therapy selection in solid tumors - Test 168
- Targeted gene panel sequencing for solid tumors for therapy selection - Test 169
- Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome) - Test 187
- Optimization of platelet antiplatelet therapy clopidogrel (Plavix) - Test 188
- Optimization of methotrexate therapy - Test 189
- Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis - Test 190
- Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine - Test 191
- Minimal residual disease in patients with neuroblastoma - Test 192
- Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine) - Test 193 / 194
- Slow metabolizers by CYP2C9 - Test 195
- Slow metabolizers by CYP2C19 - Test 196
- Slow metabolizers by CYP2D6 - Test 197
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 205
- Confirmatory analysis / segregation of aberrations identified by microarray analysis and NGS - Test 206
- DNA banking - Test 215 / 216 / 217 / 218 / 219 / 220
- Sequencing at the customer's request - Test 221 / 222 / 223
- Fragment analysis at the customer's request - Test 224 / 225 / 226
- Microarray scanning at the customer's request - Test 227
- Microarray scanning and bioinformatics analysis at the customer's request - Test 228
- Comprehensive bioinformatics analysis and interpretation of NGS data - Test 229 / 230
- Genetic counseling, Professor - Test 231
- Genetic counseling, Medical doctor - Test 232