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Test 1. Hereditary Breast and Ovarian Cancer (HBOC)

Test 2. Hereditary Breast and Ovarian Cancer (HBOC)

Test 3. Hereditary Breast and Ovarian Cancer (HBOC)

Test 4. Hereditary Breast and Ovarian Cancer (HBOC)

Test 5. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 6. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 7. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 8. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 9. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 10. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 11. Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Test 12. Hereditary Gastrointestinal Tumors

Test 13. Familial Adenomatous Polyposis (FAP)

Test 14. Familial Adenomatous Polyposis (FAP)

Test 15. Familial Adenomatous Polyposis (FAP)

Test 16. Familial Adenomatous Polyposis (FAP)

Test 17. Herschprung Disease

Test 18. Multiple Endocrine Neoplasia (MEN)

Test 19. Multiple Endocrine Neoplasia (MEN)

Test 20. Multiple Endocrine Neoplasia (MEN)

Test 21. Multiple Endocrine Neoplasia (MEN)

Test 22. Li-Fraumeni Syndrome

Test 23. Li-Fraumeni syndrome

Test 24. Familial Prostate Cancer

Test 25. Фамилен рак на панкреаса

Test 26. Фамилен рак на кожата

Test 27. Наследствени онкологични заболявания, разширен панел

Test 28. Hereditary Paraganglioma - Pheochromocytoma / PGL/PCC syndrome/

Test 29. Hereditary syndromes associated with tumors of CNS, PNS

Test 30. RASopathies, Genetic syndroms, resulting from mutations in genes coding components or regulators of Ras/MAPK pathway

Test 31. Hereditary Neuroblastoma

Test 32. Neurofibromatosis type 1

Test 33. Neurofibromatosis type 1

Test 34. Neurofibromatosis type 2

Test 35. Gorlin-Goltz syndrome

Test 36. Gorlin-Goltz syndrome

Test 37. Gorlin-Goltz syndrome

Test 38. Туберозна склероза

Test 39. Epilepsy with febrile seizures, GEFS+ and Dravet syndrome

Test 40. Epilepsy with febrile seizures, GEFS+ and Dravet syndrome

Test 41. Epilepsy with febrile seizures, GEFS+ and Dravet syndrome

Test 42. Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy

Test 43. Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy

Test 44. Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy

Test 45. Childhood absence epilepsy and GLUT1 deficiency

Test 46. Childhood absence epilepsy and GLUT1 deficiency

Test 47. Childhood absence epilepsy and GLUT1 deficiency

Test 48. Epileptic encephalopathies

Test 49. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Test 50. Epilepsy and epileptic syndromes - extended panel

Test 51. Мigraine

Test 52. Neuromuscular diseases

Test 53. Congenital hypotension

Test 54. Hereditary spastic paraplegia

Test 55. Наследствена спастична параплегия

Test 56. Hereditary spastic paraplegia

Test 57. Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia

Test 58. Hereditary neuropathies

Test 59. Hereditary cerebellar ataxia

Test 60. Cerebellar hypoplasia

Test 61. Syndromic intellectual disability

Test 62. Autism

Test 63. Изоставане в НПР, интелектуален дефицит и/или вродени аномалии

Test 64. Известни микроделеционни/ микродупликационни синдроми

Test 65. Alzheimer's disease

Test 66. Alzheimer's disease

Test 67. Parkinson's disease

Test 68. Dementia

Test 69. Frontotemporal degeneration

Test 70. Amyotrophic lateral sclerosis

Test 71. Amyotrophic lateral sclerosis and frontotemporal degeneration

Test 72. Motor disorders

Test 73. Childhood onset leukodystrophy

Test 74. Leukodystrophy with brain calcifications

Test 75. Late-onset leukodystrophy

Test 76. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Test 77. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Test 78. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Test 79. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Test 80. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Test 81. Glaucoma

Test 82. Glaucoma

Test 83. Glaucoma

Test 84. Glaucoma

Test 85. Cone-rod retinal degeneration

Test 86. Cone-rod retinal degeneration

Test 87. Cone-rod retinal degeneration

Test 88. Cone-rod retinal degeneration

Test 89. Leber congenital amaurosis

Test 90. Leber congenital amaurosis

Test 91. Leber congenital amaurosis

Test 92. Leber hereditary optic neuropathy

Test 93. Retinal pigment degeneration (Retinitis pigmentosa)

Test 94. Retinal pigment degeneration (Retinitis pigmentosa)

Test 95. Retinal pigment degeneration (Retinitis pigmentosa)

Test 96. Retinal pigment degeneration

Test 97. Retinal pigment degeneration (Retinitis pigmentosa)

Test 98. Retinal pigment degeneration (Retinitis pigmentosa)

Test 99. Retinal pigment degeneration (Retinitis pigmentosa)

Test 100. Retinal pigment degeneration (Retinitis pigmentosa)

Test 101. Retinal pigment degeneration (Retinitis pigmentosa)

Test 102. Retinal degeneration Usher syndrome type 2

Test 103. Retinal degeneration Usher syndrome type 2

Test 104. Retinal degeneration Usher syndrome type 2

Test 105. Bardet-Biedl syndrome

Test 106. Congenital stationary night blindness

Test 107. Retinoschisis

Test 108. Retinoblastoma

Test 109. Retinoblastoma

Test 110. Cataract

Test 111. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 112. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 113. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 114. Syndromic and non-syndromic hearing loss

Test 115. Sensorineural hearing loss and Wolfram type 1 syndrome

Test 116. Cortico-resistant nephrotic syndrome

Test 117. Cortico-resistant nephrotic syndrome

Test 118. Congenital anomalies of the urinary system

Test 119. Congenital anomalies of the urinary system

Test 120. Congenital anomalies of the urinary system

Test 121. UMOD-associated nephropathy

Test 122. Ciliopathies

Test 123. Наследствени бъбречни заболявания

Test 124. Endocrine diseases

Test 125. Congenital hypopituitarism

Test 126. Congenital hypothyroidism

Test 127. Congenital hypothyroidism

Test 128. Congenital hypothyroidism

Test 129. Isolated Growth Hormone Deficiency

Test 130. Isolated Growth Hormone Deficiency

Test 131. Maturity-onset diabetes of youth (MODY)

Test 132. Maturity-onset diabetes of youth (MODY)

Test 133. Maturity-onset diabetes of youth (MODY)

Test 134. Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Test 135. Кардиомиопатии и аритмии

Test 136. Фамилна хиперхолестеролемия

Test 137. Фамилна хипертриглицеридемия

Test 138. Фамилна липодистрофия

Test 139. Фамилни заболявания с повишен риск за цереброваскуларен инцидент (инсулт)

Test 140. Синдром на Ehler-Danlos и свързани заболявания

Test 141. Фамилна хеморагична телангиектазия и васкуларни малформации

Test 142. Фамилни сърдечни заболявания

Test 143. Мitochondrial diseases

Test 144. Мitochondrial diseases

Test 145. Митохондриални заболявания

Test 146. Connective tissue diseases

Test 147. Marfan Syndrome and Marfan-Like Disorders

Test 148. Синдром на Marfan и Marfan-подобни заболявания

Test 149. Skeletal dysplasias

Test 150. Мулти малформативни заболявания

Test 151. Arthrogryposis

Test 152. Моногенни възпалителни заболявания на червата ( IBD) с ранно начало (преди 6 г.възраст).

Test 153. Фамилен панкреатит

Test 154. Болест на Hirschsprung

Test 155. Liver diseases

Test 156. Immune diseases

Test 157. Hematological diseases

Test 158. Syndromic and nonsyndromic diseases with dermatological symptoms

Test 159. Metabolic diseases

Test 160. Reproductive panel - women

Test 161. Reproductive panel - men

Test 162. Скрининг за хетерозиготно носителство на рецесивни заболявания при двойки

Test 163. Carrier Analysis of Variants Associated with Reproductive Disadvantages

Test 164. Carrier Analysis of Variants Associated with Reproductive Disadvantages

Test 165. BRCA-свързан разширен панел за оценка на фамилен риск и избор на терапия

Test 166. Избор на терапия при карцином на гърда

Test 167. Избор на терапия при карцином на гърда

Test 168. Избор на терапия при карцином на простатата

Test 169. Избор на терапия при солидни тумори, свързани с дефицит на хомоложна рекомбинация (рак на гърдата, яйчник, простата и панкреас)

Test 170. Геномно профилиране във връзка с избор на терапия при солидни тумори

Test 171. Таргетно секвениране на панел от гени при солидни тумори във връзка с избор на терапия

Test 172. Prognostic markers in tumors of the central nervous system

Test 173. Prognostic markers in tumors of the central nervous system

Test 174. Prognostic markers in tumors of the central nervous system

Test 175. Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others

Test 176. Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others

Test 177. Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors

Test 178. Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors

Test 179. Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors

Test 180. Diagnostic marker for the presence of DICER1 syndrome

Test 181. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

Test 182. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

Test 183. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

Test 184. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

Test 185. Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)

Test 186. Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)

Test 187. Предиктивен маркер за таргетна терапия при хронична лимфоцитна левкемия/ХЛЛ/

Test 188. Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)

Test 189. Optimizing therapy with the indirect anticoagulant acenocoumarol (Syntrom)

Test 190. Optimizing therapy with the antiplatelet agent clopidogrel (Plavix)

Test 191. Optimization of methotrexate therapy

Test 192. Optimizing Isoniazid for the treatment of pulmonary tuberculosis

Test 193. Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine

Test 194. Изследване на UGT1A1 вариант за оптимизиране на химиотерапията

Test 195. Minimal residual disease in patients with neuroblastoma

Test 196. Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)

Test 197. Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)

Test 198. Slow metabolizers by CYP2C9

Test 199. Slow metabolizers by CYP2C19

Test 200. Slow metabolizers by CYP2D6

Test 201. Diagnostic markers in brain, rhabdoid, solid and other tumors

Test 202. Diagnostic markers in brain, rhabdoid, solid and other tumors

Test 203. Analysis of extended panel of genes for Family Oncology Diseases and Interpretation

Test 204. Whole exome sequencing (WES) and interpretation of clinical exome

Test 205. Whole exome sequencing (WES) of a patient and both parents, including analysis and interpretation.

Test 206. Mutation carrier in family with known genetic cause of hereditary disease

Test 207. Confirmation analysis of mutation found with Next Generation Sequencing (NGS)

Test 208. Потвърдителен анализ /сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

Test 209. Потвърдителен анализ /сегрегация на аберации, открити чрез микрочипов анализ и NGS

Test 210. Потвърдителен анализ/сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

Test 211. Microdeletion and Microduplication Syndromes

Test 212. Neuropsychological development delay / Autistic Spectrum Diseases

Test 213. Congenital abnormalities and malformative syndromes / spontaneous abortions

Test 214. Prader Willi/Angelman

Test 215. Russell-Silver/Beckwith-Wiedemann syndrome

Test 216. Angelman Syndrome

Test 217. Изследване на унипарентна дизомия

Test 218. DNA banking

Test 219. DNA banking

Test 220. DNA banking

Test 221. DNA banking

Test 222. DNA banking

Test 223. DNA banking

Test 224. Sequencing at the customer's request

Test 225. Sequencing at the customer's request

Test 226. Sequencing at the customer's request

Test 227. Fragment analysis at the customer's request

Test 228. Fragment analysis at the customer's request

Test 229. Fragment analysis at the customer's request

Test 230. Microarray scanning at the customer's request

Test 231. Microarray scanning and bioinformatics analysis at the customer's request

Test 232. Comprehensive bioinformatics analysis and interpretation of NGS data

Test 233. Comprehensive bioinformatics analysis and interpretation of NGS data

Test 234. Genetic counseling, Professor

Test 235. Genetic counseling, Doctor

Test 236. Microarray analysis with reagents provided by Ministry of Health

Test 237. Analysis of clinical exome, confirmation and interpretation, with reagents provided by the Ministry of Health

Test 238. Цялостно геномно секвениране с анализ и интерпретация

Test 239. Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Test 240. Neurofibromatosis type 1

Test 241. Neurofibromatosis type 2

Test 242. Growth deficiency

Test 243. Chromosomal copy number variations in Childhood solid tumors (Neublastom / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor)

Test 244. Детски солидни тумори

Test 245. Цялостно геномно секвениране с анализ и интерпретация на панел от до 100 гени

Test 246. Цялостно геномно секвениране с анализ и интерпретация на панел от 100 до 200 гени

Test 247. Цялостно геномно секвениране с анализ и интерпретация на панел от 200 до 500 гени

Test 248. Цялостно геномно секвениране и анализ и интерпретация на панел от над 500 гени

Test 249. Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)

Test 250. Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)