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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. Hereditary spastic paraplegia

Test 56. Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia

Test 57. Hereditary neuropathies

Test 58. Hereditary cerebellar ataxia

Test 59. Cerebellar hypoplasia

Test 60. Syndromic intellectual disability

Test 61. Autism

Test 62. Изоставане в НПР, интелектуален дефицит и/или вродени аномалии

Test 63. Известни микроделеционни/ микродупликационни синдроми

Test 64. Alzheimer's disease

Test 65. Alzheimer's disease

Test 66. Parkinson's disease

Test 67. Dementia

Test 68. Frontotemporal degeneration

Test 69. Amyotrophic lateral sclerosis

Test 70. Amyotrophic lateral sclerosis and frontotemporal degeneration

Test 71. Motor disorders

Test 72. Childhood onset leukodystrophy

Test 73. Leukodystrophy with brain calcifications

Test 74. Late-onset leukodystrophy

Test 75. Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

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. Glaucoma

Test 81. Glaucoma

Test 82. Glaucoma

Test 83. Glaucoma

Test 84. Cone-rod retinal degeneration

Test 85. Cone-rod retinal degeneration

Test 86. Cone-rod retinal degeneration

Test 87. Cone-rod retinal degeneration

Test 88. Leber congenital amaurosis

Test 89. Leber congenital amaurosis

Test 90. Leber congenital amaurosis

Test 91. Leber hereditary optic neuropathy

Test 92. Retinal pigment degeneration (Retinitis pigmentosa)

Test 93. Retinal pigment degeneration (Retinitis pigmentosa)

Test 94. Retinal pigment degeneration (Retinitis pigmentosa)

Test 95. Retinal pigment degeneration

Test 96. Retinal pigment degeneration (Retinitis pigmentosa)

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 degeneration Usher syndrome type 2

Test 102. Retinal degeneration Usher syndrome type 2

Test 103. Retinal degeneration Usher syndrome type 2

Test 104. Bardet-Biedl syndrome

Test 105. Congenital stationary night blindness

Test 106. Retinoschisis

Test 107. Retinoblastoma

Test 108. Retinoblastoma

Test 109. Cataract

Test 110. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 111. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 112. Hereditary and sporadic nonsyndromic neurosensory hearing loss

Test 113. Syndromic and non-syndromic hearing loss

Test 114. Sensorineural hearing loss and Wolfram type 1 syndrome

Test 115. Cortico-resistant nephrotic syndrome

Test 116. Cortico-resistant nephrotic syndrome

Test 117. Congenital anomalies of the urinary system

Test 118. Congenital anomalies of the urinary system

Test 119. Congenital anomalies of the urinary system

Test 120. UMOD-associated nephropathy

Test 121. Ciliopathies

Test 122. Наследствени бъбречни заболявания

Test 123. Endocrine diseases

Test 124. Congenital hypopituitarism

Test 125. Congenital hypothyroidism

Test 126. Congenital hypothyroidism

Test 127. Congenital hypothyroidism

Test 128. Isolated Growth Hormone Deficiency

Test 129. Isolated Growth Hormone Deficiency

Test 130. Maturity-onset diabetes of youth (MODY)

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

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

Test 133. Кардиомиопатии и аритмии

Test 134. Фамилна хиперхолестеролемия

Test 135. Фамилна хипертриглицеридемия

Test 136. Фамилна липодистрофия

Test 137. Фамилни заболявания с повишен риск за цереброваскуларен инцидент (инсулт)

Test 138. Синдром на Ehler-Danlos и свързани заболявания

Test 139. Фамилна хеморагична телангиектазия и васкуларни малформации

Test 140. Фамилни сърдечни заболявания

Test 141. Мitochondrial diseases

Test 142. Мitochondrial diseases

Test 143. Митохондриални заболявания

Test 144. Connective tissue diseases

Test 145. Marfan Syndrome and Marfan-Like Disorders

Test 146. Синдром на Marfan и Marfan-подобни заболявания

Test 147. Skeletal dysplasias

Test 148. Мулти малформативни заболявания

Test 149. Arthrogryposis

Test 150. Моногенни възпалителни заболявания на червата ( IBD) с ранно начало (преди 6 г.възраст).

Test 151. Фамилен панкреатит

Test 152. Болест на Hirschsprung

Test 153. Liver diseases

Test 154. Immune diseases

Test 155. Hematological diseases

Test 156. Syndromic and nonsyndromic diseases with dermatological symptoms

Test 157. Metabolic diseases

Test 158. Reproductive panel - women

Test 159. Reproductive panel - men

Test 160. Скрининг за хетерозиготно носителство на рецесивни заболявания при двойки

Test 161. Carrier Analysis of Variants Associated with Reproductive Disadvantages

Test 162. Carrier Analysis of Variants Associated with Reproductive Disadvantages

Test 163. BRCA-свързан разширен панел за оценка на фамилен риск и избор на терапия

Test 164. Избор на терапия при карцином на гърда

Test 165. Избор на терапия при карцином на гърда

Test 166. Избор на терапия при карцином на простатата

Test 167. Избор на терапия при солидни тумори, свързани с дефицит на хомоложна рекомбинация (рак на гърдата, яйчник, простата и панкреас)

Test 168. Изчерпателно геномно профилиране (CGP) във връзка с избор на терапия при солидни тумори

Test 169. Таргетно секвениране на панел от гени при солидни тумори във връзка с избор на терапия

Test 170. Prognostic markers in tumors of the central nervous system

Test 171. Prognostic markers in tumors of the central nervous system

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

Test 173. Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others

Test 174. Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others

Test 175. Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors

Test 176. Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors

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

Test 178. Diagnostic marker for the presence of DICER1 syndrome

Test 179. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

Test 180. Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)

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

Test 184. Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)

Test 185. Предиктивен маркер за таргетна терапия при хронична лимфоцитна левкемия/ХЛЛ/

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

Test 187. Optimizing therapy with the indirect anticoagulant acenocoumarol (Syntrom)

Test 188. Optimizing therapy with the antiplatelet agent clopidogrel (Plavix)

Test 189. Optimization of methotrexate therapy

Test 190. Optimizing Isoniazid for the treatment of pulmonary tuberculosis

Test 191. Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine

Test 192. Minimal residual disease in patients with neuroblastoma

Test 193. Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)

Test 194. Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)

Test 195. Slow metabolizers by CYP2C9

Test 196. Slow metabolizers by CYP2C19

Test 197. Slow metabolizers by CYP2D6

Test 198. Diagnostic markers in brain, rhabdoid, solid and other tumors

Test 199. Diagnostic markers in brain, rhabdoid, solid and other tumors

Test 200. Analysis of extended panel of genes for Family Oncology Diseases and Interpretation

Test 201. Whole exome sequencing (WES) and interpretation of clinical exome

Test 202. Whole exome sequencing (WES) of a patient and both parents, including analysis and interpretation.

Test 203. Mutation carrier in family with known genetic cause of hereditary disease

Test 204. Confirmation analysis of mutation found with Next Generation Sequencing (NGS)

Test 205. Потвърдителен анализ /сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

Test 206. Потвърдителен анализ /сегрегация на аберации, открити чрез микрочипов анализ и NGS

Test 207. Потвърдителен анализ/сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

Test 208. Microdeletion and Microduplication Syndromes

Test 209. Neuropsychological development delay / Autistic Spectrum Diseases

Test 210. Congenital abnormalities and malformative syndromes / spontaneous abortions

Test 211. Prader Willi/Angelman

Test 212. Russell-Silver/Beckwith-Wiedemann syndrome

Test 213. Angelman Syndrome

Test 214. Изследване на унипарентна дизомия

Test 215. DNA banking

Test 216. DNA banking

Test 217. DNA banking

Test 218. DNA banking

Test 219. DNA banking

Test 220. DNA banking

Test 221. Sequencing at the customer's request

Test 222. Sequencing at the customer's request

Test 223. Sequencing at the customer's request

Test 224. Fragment analysis at the customer's request

Test 225. Fragment analysis at the customer's request

Test 226. Fragment analysis at the customer's request

Test 227. Microarray scanning at the customer's request

Test 228. Microarray scanning and bioinformatics analysis at the customer's request

Test 229. Comprehensive bioinformatics analysis and interpretation of NGS data

Test 230. Comprehensive bioinformatics analysis and interpretation of NGS data

Test 231. Genetic counseling, Professor

Test 232. Genetic counseling, Doctor

Test 233. Microarray analysis with reagents provided by Ministry of Health

Test 234. Analysis of clinical exome, confirmation and interpretation, with reagents provided by the Ministry of Health

Test 235. Цялостно геномно секвениране с анализ и интерпретация

Test 236. Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Test 237. Neurofibromatosis type 1

Test 238. Neurofibromatosis type 2

Test 239. Growth deficiency

Test 240. Chromosomal copy number variations in Childhood solid tumors (Neublastom / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor)

Test 241. Детски солидни тумори

Test 242. Цялостно геномно секвениране с анализ и интерпретация на панел от до 100 гени

Test 243. Цялостно геномно секвениране с анализ и интерпретация на панел от 100 до 200 гени

Test 244. Цялостно геномно секвениране с анализ и интерпретация на панел от 200 до 500 гени

Test 245. Цялостно геномно секвениране и анализ и интерпретация на панел от над 500 гени

Test 246. Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)

Test 247. Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)