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 / 56
- Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia - Test 57
- Hereditary Motor-Sensory Neuropathies - Test 58
- Hereditary Ataxias - Test 59
- Cerebellar hypoplasia - Test 60
- Syndromic intellectual deficit and neurodevelopmental disorders - Test 61
- Autism - Test 62
- Developmental delay, intellectual disability, and/or congenital anomalies - Test 63
- Known microdeletion/microduplication syndromes - Test 64
- Alzheimer's disease - Test 65 / 66
- Parkinson's disease - Test 67
- Dementia - Test 68
- Frontotemporal degeneration - Test 69
- Amyotrophic lateral sclerosis - Test 70
- Amyotrophic lateral sclerosis/ Frontotemporal degeneration - Test 71
- Motor disorders - Test 72
- Leukodystrophy with childhood-onset - Test 73
- Leukodystrophy with brain calcifications - Test 74
- Leukodystrophy with late-onset - Test 75
- Macular degeneration - Test 76 / 77 / 78 / 79 / 80
- Glaucoma - Test 81 / 82 / 83 / 84
- Cone-rod retinal degeneration - Test 85 / 86 / 87 / 88
- Leber hereditary optic neuropathy - Test 89 / 90 / 91 / 92
- Retinal pigment degeneration - Test 93 / 94 / 95 / 96 / 97 / 98 / 99 / 100 / 101
- Usher syndrome type 2 - Test 102 / 103 / 104
- Bardet-Biedl syndrome - Test 105
- Congenital stationary night blindness - Test 106
- Retinoschisis - Test 107
- Retinoblastoma - Test 108 / 109
- Cataract - Test 110
- Hereditary and sporadic nonsyndromic neurosensory hearing loss - Test 111 / 112 / 113 / 114
- Sensorineural hearing loss and Wolfram syndrome type 1 - Test 115
- Cortico-resistant nephrotic syndrome - Test 116 / 117
- Congenital anomalies of the urinary system - Test 118 / 119 / 120
- UMOD-associated nephropathy - Test 121
- Ciliopathies - Test 122
- Hereditary kidney diseases - Test 123
- Endocrine diseases - Test 124
- Congenital hypopituitarism - Test 125
- Congenital hypothyroidism - Test 126 / 127 / 128
- Isolated growth hormone deficiency - Test 129 / 130
- Maturity-onset diabetes of the young (MODY) - Test 131 / 132 / 133
- Cardiomyopathies and arrhythmias - Test 135
- Familial hypercholesterolemia - Test 136
- Familial hypertriglyceridemia - Test 137
- Familial lipodystrophy - Test 138
- Familial disorders associated with an increased risk of cerebrovascular events (stroke) - Test 139
- Ehlers–Danlos syndrome and related disorders - Test 140
- Familial hemorrhagic telangiectasia and vascular malformations - Test 141
- Familial heart diseases - Test 142
- Mitochondrial diseases - Test 143 / 144 / 145
- Connective tissue diseases - Test 146
- Marfan syndrome and Marfan-like diseases - Test 147 / 148
- Skeletal dysplasias - Test 149
- Multiple congenital malformation disorders - Test 150
- Arthrogryposis - Test 151
- Monogenic inflammatory bowel diseases (IBD) with early onset (before 6 years of age) - Test 152
- Familial pancreatitis - Test 153
- Hirschsprung disease - Test 154
- Liver diseases - Test 155
- Immune diseases - Test 156
- Hematological diseases - Test 157
- Syndromic and non-syndromic diseases with dermatological symptoms - Test 158
- Reproductive panel - women - Test 160
- Reproductive panel - men - Test 161
- Carrier screening for heterozygous carriers of recessive diseases in couples - Test 162
- Metabolic diseases - Test 159
- BRCA-related expanded panel for assessment of familial risk and therapy selection - Test 165
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 175 / 176
- Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 177 / 178 / 179
- Diagnostic marker for the presence of DICER1 syndrome - Test 180
- Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 181 / 182 / 183 / 184
- Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 185
- Diagnostic markers in brain, rhabdoid, solid and other tumors - Test 201 / 202
- Extended gene panel analysis for familial oncological diseases and interpretation - Test 203
- Whole Exome Sequencing (WES) and interpretation of the clinical exome - Test 204
- Whole Exome Sequencing (WES) without analysis and interpretation - Test 205
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 208
- Confirmatory analysis / segregation of aberrations identified by microarray analysis and NGS - Test 209
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 210
- Microdeletion / microduplication syndromes - Test 211
- Neurodevelopmental disorders/Autism spectrum disorders - Test 212
- Prader Willi/Angelman syndromes - Test 214
- Russell-Silver/Beckwith-Wiedemann syndromes - Test 215
- Angelman syndromes - Test 216
- Uniparental disomy testing - Test 217
- Microarray analysis with reagents provided by the Ministry of Health - Test 236
- Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health - Test 237
- Whole genome sequencing (WGS) with analysis and interpretation - Test 238
- Congenital adrenal hyperplasia (21 hydroxylase deficiency) - Test 134 / 239
- Neurofibromatosis type 1 - Test 240
- Neurofibromatosis type 2 - Test 241
- Growth deficiency - Test 242
- 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 243
- Pediatric solid tumors - Test 244
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of up to 100 genes - Test 245
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 100 to 200 genes - Test 246
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 200 to 500 genes - Test 247
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of over 500 genes - Test 248
- Bioinformatic analysis and interpretation of whole genome sequencing (WGS) data - Test 249 / 250
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 204
- Whole Exome Sequencing (WES) without analysis and interpretation - Test 205
- Carrier testing in a family with a known genetic cause of hereditary disease - Test 206
- Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS) - Test 207
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 210
- Congenital anomalies and malformative syndromes / miscarriages - Test 213
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 211
- Neurodevelopmental disorders/Autism spectrum disorders - Test 212
- Congenital anomalies and malformative syndromes / miscarriages - Test 213
- Uniparental disomy testing - Test 217
- Microarray analysis with reagents provided by the Ministry of Health - Test 236
Prognostic tests
English Text
- Reproductive panel - women - Test 160
- Reproductive panel - men - Test 161
- BRCA-related expanded panel for assessment of familial risk and therapy selection - Test 165
- Prognostic markers in tumors of the central nervous system - Test 172 / 173 / 174
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 175 / 176
- Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors - Test 177 / 178 / 179
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 160
- Reproductive panel - men - Test 161
- Prognostic markers in tumors of the central nervous system - Test 172 / 173 / 174
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc. - Test 175 / 176
- Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST) - Test 181 / 182 / 183 / 184
- Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.) - Test 185
- Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/ - Test 186 / 187 / 188
- Carrier Analysis of Variants Associated with Reproductive Disadvantages - Test 163 / 164
Other tests offered by LGD
- Therapy selection in breast cancer - Test 166 / 167
- Therapy selection in prostate cancer - Test 168
- Therapy selection for solid tumors associated with homologous recombination deficiency (breast, ovarian, prostate, and pancreatic cancers) - Test 169
- Comprehensive genomic profiling (CGP) for therapy selection in solid tumors - Test 170
- Targeted gene panel sequencing for solid tumors for therapy selection - Test 171
- Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome) - Test 189
- Optimization of platelet antiplatelet therapy clopidogrel (Plavix) - Test 190
- Optimization of methotrexate therapy - Test 191
- Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis - Test 192
- Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine - Test 193
- Изследване на UGT1A1 вариант за оптимизиране на химиотерапията - Test 194
- Minimal residual disease in patients with neuroblastoma - Test 195
- Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine) - Test 196 / 197
- Slow metabolizers by CYP2C9 - Test 198
- Slow metabolizers by CYP2C19 - Test 199
- Slow metabolizers by CYP2D6 - Test 200
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS) - Test 208
- Confirmatory analysis / segregation of aberrations identified by microarray analysis and NGS - Test 209
- DNA banking - Test 218 / 219 / 220 / 221 / 222 / 223
- Sequencing at the customer's request - Test 224 / 225 / 226
- Fragment analysis at the customer's request - Test 227 / 228 / 229
- Microarray scanning at the customer's request - Test 230
- Microarray scanning and bioinformatics analysis at the customer's request - Test 231
- Comprehensive bioinformatics analysis and interpretation of NGS data - Test 232 / 233
- Genetic counseling, Professor - Test 234
- Genetic counseling, Medical doctor - Test 235