Price
Test Disease Scope and Object Method Material Price Deadline
Inherited Oncological Diseases
1
Hereditary Breast and Ovarian Cancer (HBOC)
Germline mutations in the BRCA1 and BRCA2 genes Clinical Exome Sequencing, Confirmation by Sanger Sequencing 5-7 ml. of blood, with EDTA 850 BGN 30 working days
2 Large deletion/insertion rearrangements in the BRCA1 gene MLPA 5-7 ml. of blood, with EDTA 220 BGN 10 working days
3 Large deletion/insertion rearrangements in the BRCA2 gene MLPA 5-7 ml of blood, with EDTA 220 BGN 10 working days
4 Cancer panel of 31 genes associated with HBOC Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 30 working days
5
Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Microsatellite instability of a panel of 10 markers (normal sample/tumor) Fragment Analysis tumor and normal samples/FFPE/fresh-frozen tissue 300 BGN 20 working days
6 Mutations in 38 colorectal cancer associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
7 HNPCC (Lynch syndrome) - Mutations in MLH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
8 HNPCC (Lynch syndrome) - Mutations in MSH2 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
9 HNPCC (Lynch syndrome) - Mutations in MSH6 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 30 working days
10 Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
11 A panel of 5 genes associated with HNPCC Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
12
Hereditary Gastrointestinal Tumors
Mutation in 43 associated genes with hereditary gastrointestinal tumors, colorectal and stomac cancer or polyps developmental risk Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
13
Familial adenomatous polyposis (FAP)
Mutations in exon 16 of APC gene Direct Sequencing 5-7 ml of blood, with EDTA 280 BGN 15 working days
14 Mutations in APC gene (excluding exon 16) Direct Sequencing 5-7 ml of blood, with EDTA 245 BGN 15 working days
15 Mutations in APC gene Direct Sequencing 5-7 ml of blood, with EDTA 480 BGN 30 working days
16 Large deletions/ insertions and rearrangements in APC gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
17
Hirschsprung's disease
Mutations in RET gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
18
Multiple Endocrine Neoplasia (MEN)
Mutations in MEN1 gene Direct Sequencing 5-7 ml of blood, with EDTA 250 BGN 15 working days
19 Mutations in exons 10, 11, 13, 14, 15, 16 of RET gene (covering 90% of the known mutations) Direct Sequencing 5-7 ml of blood, with EDTA 160 BGN 10 working days
20 Mutations in all exons of RET gene (excluding exons 10, 11, 13, 14, 15, 16) Direct Sequencing 5-7 ml of blood, with EDTA 240 BGN 15 working days
21 Mutations in RET gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
22
Li-Fraumeni syndrome
Mutations in TP53 gene Direct Sequencing 5-7 ml of blood, with EDTA 250 BGN 15 working days
23 Large deletions/ insertions and rearrangements in TP53 gene MLPA 5-7 ml of blood, with EDTA or tumor tissue 220 BGN 15 working days
24
Familial prostate cancer
A panel of 35 genes associated with prostate cancer Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
25
Фамилен рак на панкреаса
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рак на панкреаса Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв / 613.55 EUR 40 работни дни
26
Фамилен рак на кожата
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рак на кожата  Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв / 613.55 EUR 40 работни дни
27
Наследствени онкологични заболявания
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с наследствени онкологични заболявания Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв / 613.55 EUR 40 работни дни
28
Hereditary Paraganglioma / Pheochromocytoma / PGL / PCC syndrome
Mutations in 20 genes associated with Hereditary Paraganglioma/ Pheochromocytoma Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
29
Hereditary syndromes associated with tumors of the CNS, PNS
Mutations in 36 genes associated with CNS/ PNS tumors Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
30
RASopathies, Genetic syndromes resulting of mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway
Mutations in 36 panel genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
31
Hereditary Neuroblastoma
Mutation in 2 associated with hereditary neuroblastoma gene panel (ALK and PHOX2B) Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
32
Neurofibromatosis type 1
Analysis of deep intronic variants Direct Sequencing 5-7 ml of blood, with EDTA 300 BGN 15 working days
33 Analysis of the NF1 gene for large deletions / insertions and rearrangements MLPA 5-7 ml of blood, with EDTA 400 BGN 15 working days
34
Neurofibromatosis type 2
Analysis of the NF2 gene for large deletions / insertions and rearrangements MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
Редки синдроми
35
Gorlin Goltz syndrome
Mutations in exons 2, 3, 6, 8, 9, 10, 13, 15 of PTCH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 220 BGN 20 working days
36 Mutations in exons 1, 4, 5, 7, 11, 12, 14, 16, 17, 18, 19, 20, 21 22, 23 of PTCH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 280 BGN 20 working days
37 Mutations in PTCH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 450 BGN 30 working days
38
Туберозна склероза
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с туберозна склероза Clinical Exome Sequencing 5-7 мл. кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
Neurological Epilepsy
39
Epilepsy with febrile seizures, GEFS + and Dravet syndrome
Mutations in SCN1A gene Direct Sequencing 5-7 ml of blood, with EDTA 460 BGN 30 working days
40 Deletions/duplications and rearrangements of SCN1A gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
41 Mutations, deletions/duplications and rearrangements in SCN1A gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 630 BGN 30 working days
42
Epilepsy with benign neonatal and neonatal-infantile seizures and early onset epileptic encephalopathy
Mutations in KCNQ2 gene Direct Sequencing 5-7 ml of blood, with EDTA 320 BGN 30 working days
43 Deletions/duplications and rearrangements of KCNQ2 gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
44 Mutations, deletions/duplications and rearrangements of KCNQ2 gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 500 BGN 30 working days
45
Childhood absence epilepsy and GLUT1 deficiency
Mutations in SLC2A1(GLUT1) gene Direct Sequencing 5-7 ml of blood, with EDTA 240 BGN 30 working days
46 Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
47 Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 420 BGN 30 working days
48
Epileptic encephalopathies
Mutations in 516 epileptic encephalopathies associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
49
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
Mutation in 84 autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
50
Epilepsy and epileptic syndromes - extended panel
Mutations in 1089 epilepsy and epileptic syndromes associated genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1600 BGN 50 working days
51
Мigraine
Mutations in 24 nuclear encoded genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
52
Neuromuscular diseases
Mutations in 496 neuromuscular disease associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
53
Congenital hypotension
Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
54
Hereditary spastic paraplegia
Mutations in SPG4 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
55 Mutations in 111 hereditary spastic paraplegia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
56
Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia
Hotspot mutation p.L78X in SPG7 gene Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 10 working days
57
Hereditary Motor-Sensory Neuropathies
Mutations in 281 genes associated with hereditary motor and sensory neuropathies Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
58
Hereditary Ataxias
Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
59
Cerebellar hypoplasia
Mutations in 68 cerebellar hypoplasia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
Невропсихично развитие
60
Syndromic intellectual deficit and neurodevelopmental disorders
Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation Clinical Exome Sequencing 5-7 ml blood, with EDTA 1600 BGN 50 working days
61
Autism
Mutations in 1131 autistic associated genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1600 BGN 50 working days
62
Изоставане в НПР, интелектуален дефицит и/или вродени аномалии
Субтеломерни микроделеции/микродупликации, свързани с изоставане в умственото развитие MLPA 5-7 мл кръв, с EDTA 250 лв / 127.82 EUR 15 работни дни
63
Известни микроделеционни/ микродупликационни синдроми
Големи делеции/инсерции пренареждания в целия геном, свързани с известни микроделеционни/микродупликационни синдроми MLPA 5-7 мл кръв, с EDTA 250 лв / 127.82 EUR 15 работни дни
Neurodegenerative Diseases
64
Alzheimer's disease
APOE E2/E3/E4 allele genotyping Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 15 working days
65 A panel of 40 genes associated with AD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
66
Parkinson's disease
A panel of 86 genes associated with PD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
67
Dementia
A panel of 47 dementia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
68
Frontotemporal degeneration
A panel of 23 genes associated with FTD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
69
Amyotrophic lateral sclerosis
A panel of 82 genes associated with ALS Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
70
Amyotrophic lateral sclerosis/ Frontotemporal degeneration
Copy number varioations in C9orf72 Fragment Analysis 5-7 ml of blood, with EDTA 80 BGN 20 working days
71
Motor disorders
Mutations in 1360 genes associated with chorea, dystonia and other movement disorders Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
72
Leukodystrophy with childhood-onset
Mutations in 2938 genes associated with childhood onset leukodystrophy Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
73
Leukodystrophy with brain calcifications
Mutations in 232 genes associated with leukodystrophy with brain calcifications Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
74
Leukodystrophy with late-onset
Mutations in 84 genes associated with late-onset leukodystrophy Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
Ocular Diseases
75
Macular degeneration
Mutations in ABCA4 gene- coding and non-coding regions Direct Sequencing 5-7 ml of blood, with EDTA 650 BGN 30 working days
76 Large deletions/insertions in the ABCA4 gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
77 Mutations in a panel of 14 genes associated with Stargardt disease Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
78 Mutations in BEST1 gene Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 10 working days
79 Mutations in a panel of 30 genes associated with macular degeneration Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
80
Glaucoma
Mutations in CYP1B1 gene Direct Sequencing 5-7 ml of blood, with EDTA 260 BGN 30 working days
81 Mutation p.R299X in LTBP2 gene Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 10 working days
82 Mutations in MYOC gene Direct Sequencing 5-7 ml of blood, with EDTA 130 BGN 10 working days
83 Mutations in 25 genes associated with glaucoma Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
84
Cone-rod retinal degeneration
Mutations in CRX and GUCY2D genes and exon 15 in RPGR-ORF15 gene Direct Sequencing 5-7 ml of blood, with EDTA 450 BGN 30 working days
85 Mutations in ABCA4 gene – coding and non-coding regions Direct Sequencing 5-7 ml of blood, with EDTA 650 BGN 30 working days
86 Large deletions/insertions in the ABCA4 gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
87 Mutations in 42 genes, associated with cone-rod retinal degeneration Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
88
Leber hereditary optic neuropathy
Mutations in RPE65 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 10 working days
89 Mutations in CRX, IMPDH1 и OTX2 genes Direct Sequencing 5-7 ml of blood, with EDTA 450 BGN 30 working days
90 Mutations in 26, associated with Leber congenital amaurosis Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
91 Mutations in 3 mitochondrial genes- MT-ND1, MT-ND4 и MT-ND6 Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 10 working days
92
Retinal pigment degeneration
Mutations in RHO, PRPH2/RDS, PRPF31 and IMPDH1 genes and exon 15 in RPGR-ORF15 gene Direct Sequencing 5-7 ml of blood, with EDTA 590 BGN 30 working days
93 Mutations in USH2A, CRB1 и RHO genes and exon 15 in RPGR-ORF15 gene Direct Sequencing 5-7 ml. of blood, with EDTA 900 BGN 40 working days
94 exon 15 in RPGR-ORF15 gene Direct Sequencing 5-7 ml. of blood, with EDTA 90 BGN 20 working days
95 Mutations in RPE65 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 10 working days
96 Mutations in BEST1 gene Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 10 working days
97 Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
98 Large deletions/insertions in the USH2A MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
99 Large deletions/insertions in EYS gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
100 Mutations in 341 genes, associated with Retinitis pigmentosa Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
101
Usher syndrome type 2
Mutations in 341 genes assotiated with retinal degeneration Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
102 Mutations in USH2A gene Direct Sequencing 5-7 ml of blood, with EDTA 880 BGN 40 working days
103 Large insertions/deletions in USH2A gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
104
Bardet-Biedl syndrome
Mutations in 27 genes associated with Bardet-Biedl syndrome Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 50 working days
105
Congenital stationary night blindness
Mutations in 14 genes associated with Congenital stationary night blindness Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 50 working days
106
Retinoschisis
Mutations in RS1 gene Direct Sequencing 5-7 ml of blood, with EDTA 110 BGN 10 working days
107
Retinoblastoma
Mutations in RB1 gene Direct Sequencing 5-7 ml of blood, with EDTA 325 BGN 20 working days
108 Hot-spot mutations in RB1 gene (exons 8,10,11,14,15,17,18,23) Direct Sequencing 5-7 ml of blood, with EDTA 190 BGN 15 working days
109
Cataract
Mutations in 90 genes associated with cataract Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
Ear Diseases
110
Hereditary and sporadic nonsyndromic neurosensory hearing loss
Mutations in GJB2(Cx26) gene Direct Sequencing 5-7 ml of blood, with EDTA 120 BGN 10 working days
111 Mutations in GJB3 (Cx31) gene Direct Sequencing 5-7 ml of blood, with EDTA 120 BGN 10 working days
112 Mutations in 4 mitochondrial genes- MT-RNR1, MT-TS1 , MT-TL1 , MT-TK Direct Sequencing 5-7 ml of blood, with EDTA 160 BGN 30 working days
113 Mutations in 594 genes associated with hearing loss Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
114
Sensorineural hearing loss and Wolfram syndrome type 1
Large deletions and duplications in GJB2, GJB3, GJB6, WFS1, POU3F4 and detection of 6 mutations in GJB2 гена (c.313del14, c.235delC, c.167delT, c.101T>C, c.35delG и IVS1+1G>A) MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
Kidney Diseases
115
Cortico-resistant nephrotic syndrome
Screening for mutations in the coding regions of NHPS1 and NPHS2 genes as well as exons 8 and 9 of WT1 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 10 working days
116 mutations in 26 genes associated with nephrotic syndrome Other 5-7 ml of blood, with EDTA 1200 BGN 40 working days
117
Congenital anomalies of the urinary system
Screening for mutations in the coding regions of HNF1B and PAX2 genes Direct Sequencing 5-7 ml of blood, with EDTA 280 BGN 30 working days
118 Screening for mutations in the coding regions of 214 CAKUT associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
119 Screening for large deletions/duplications affecting the HNF1B gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
120
UMOD-associated nephropathy
Screening for mutations in the coding regions of UMOD gene Direct Sequencing 5-7 ml of blood, with EDTA 265 BGN 30 working days
121
Ciliopathies
Mutation panel 250 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
122
Наследствени бъбречни заболявания
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с наследствени бъбречни заболявания Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1400 лв. / 715.81 EUR 50 работни дни
Endocrinological and Liver Diseases
123
Endocrine diseases
Mutations in 810 genes associated with endocrine diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
124
Congenital hypopituitarism
Mutations in 10 genes associated with pituitary gland diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
125
Congenital hypothyroidism
Mutations in 24 genes associated with thyroid gland diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
126 Mutations in TPO gene Direct Sequencing 5-7 ml of blood, with EDTA 280 BGN 30 working days
127 Large deletions/ insertions and rearrangements in TPO, PAX8, FOXE1, NKX2-1 и TSHR genes MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
128
Isolated growth hormone deficiency
Mutations in GH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 130 BGN 30 working days
129 Mutations in 10 genes associated with IGHD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
130
Maturity-onset diabetes of the young (MODY)
Large deletions/ insertions and rearrangements in HNF4A, GCK, HNF1A and HNF1B genes MLPA 5-7 ml blood, with EDTA 220 BGN 15 working days
131 Mutations in HNF1B gene Direct Sequencing 5-7 ml blood, with EDTA 190 BGN 30 working days
132 Mutatins in 15 genes associated with MODY Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
Cardiovascular Diseases
133
Кардиомиопатии и аритмии
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с кардиомиопатии и аритмии Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1600 лв. / 818.07 EUR 50 работни дни
134
Фамилна хиперхолестеролемия
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хиперхолестеролемия  Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
135
Фамилна хипертриглицеридемия
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хипертриглицеридемия Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
136
Фамилна липодистрофия
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна липодистрофия  Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
137
Фамилни заболявания с повишен риск за церебноваскуларен инцидент (инсулт)
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Фамилни заболявания с повишен риск за церебноваскуларен инцидент (инсулт) Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
138
Синдром на Ehler Danlos и свързани заболявания
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани със Синдром на Ehler Danlos  и свързани  заболявания Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
139
Фамилна хемораична телангиектазия и васкуларни малформации
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хемораична телангиектазия и васкуларни малформации   Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
140
Фамилни сърдечни заболявания
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна изолирано или синдромно вродено сърдечно заболяване Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
Mitochondrial and Metabolic Diseases
141
Mitochondrial diseases
Mutations in 37 mitochondial genes associated with mitochondrial diseases Direct Sequencing 5-7 ml of blood, with EDTA 630 BGN 30 working days
142 Mutations in 266 nuclear genes associated with mitochondrial diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
143 Големи делеции/инсерции пренареждания в митохондриалната ДНК MLPA 5-7 мл кръв, с EDTA 250 лв. / 127.82 EUR 20 работни дни
Connective Tissue Diseases
144
Connective tissue diseases
Mutations in panel of 224 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
145
Marfan syndrome and Marfan-like diseases
Mutations in panel of 113 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
146 Големи делеции/инсерции пренареждания в FBN1 генa Clinical Exome Sequencing 5-7 мл кръв, с EDTA 250 лв. / 127.82 EUR 15 работни дни
147
Skeletal dysplasias
Mutations in panel of 597 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
148
Мулти малформативни заболявания
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с мулти малформативни заболявания Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1600 лв. / 818.07 EUR 50 работни дни
149
Arthrogryposis
Mutations in 288 arthrogryposis associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Гастроинтестинални
150
Моногенни възпалителни заболявания на червата ( IBD) с ранно начало (преди 6 г.възраст).
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с IBD с ранно начало  Direct Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
151
Фамилен панкреатит
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Фамилен панкреатит  Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
152
Болест на Hirschsprung
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Болест на Hirschsprung Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
Liver
153
Liver diseases
Mutations in panel ot 204 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Immune system
154
Immune diseases
Mutations in panel of 801 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
Метаболитни заболявания
157
Metabolic diseases
Mutations in panel of 1012 genes Clinical Exome Sequencing 5-7 ml of blood, wih EDTA 1600 BGN 50 working days
Hematological Diseases
155
Hematological diseases
Mutation is panel of 456 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Дерматологични
156
Syndromic and non-syndromic diseases with dermatological symptoms
Mutations in panel of 423 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Others
158
Reproductive panel - women
Mutations in panel of 212 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
159
Reproductive panel - men
Mutations in panel of 209 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
160
Скрининг за хетерозиготно носителство на рецесивни заболявания при двойки
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рецесивни заболявания Clinical Exome Sequencing 5-7 мл кръв, с EDTA 2200 лв. / 1124.84 EUR 50 работни дни
161
Carrier Analysis of Variants Associated with Reproductive Disadvantages
Variants in BMP15 gene Direct Sequencing 5-7 ml of blood, with EDTA 100 BGN 15 working days
162 Variants rs6165 and rs6166 in exon 10 of FSHR gene Direct Sequencing 5-7 ml of blood, with EDTA 100 BGN 15 working days
Biomarkers and Individualized Therapy (pharmacogenomics)
163
BRCA-свързан разширен панел за оценка на фамилен риск и избор на терапия
Анализ на BRCA1, BRCA2, CHEK2, PALB2, RAD51C и TP53 гените   Clinical Exome Sequencing 5-7 мл кръв с EDTA/туморна тъкан 1100 лв. / 562.42 EUR 30 работни дни
164
Избор на терапия при карцином на гърда
Анализ на соматични мутации в ESR1 гена  RT- PCR туморна тъкан/FFPE/течна биопсия 300 лв. / 153.39 EUR 30 работни дни
165 Анализ на соматични PIK3CA hot-spot мутации Clinical Exome Sequencing туморна тъкан/FFPE/течна биопсия 300 лв. / 153.39 EUR 30 работни дни
166
Избор на терапия при карцином на простатата
Таргетно секвениране на панел от HRR гени за установяване на варианти свързани с дефицит на хомоложна рекомбинация (HRD) Clinical Exome Sequencing туморна тъкан/FFPE/течна биопсия 1450 лв. / 741.37 EUR 40 работни дни
167
Избор на терапия при солидни тумори, свързани с дефицит на хомоложна рекомбинация (рак на гърдата, яйчник, простата и панкреас)
Установяване на дефицит на хомоложна рекомбинация (HRD) Clinical Exome Sequencing туморна тъкан/FFPE/течна биопсия 2500 лв. / 1278.23 EUR 40 работни дни
168
Изчерпателно геномно профилиране (CGP) във връзка с избор на терапия при солидни тумори
Анализ на  соматични ДНК варианти в 517 гена (SNVs, InDels,SVs, CNVs), генни фузии и сплайс варианти на РНК ниво, определяне на дефицит на хомоложна рекомбинация (HRD), (микросателитна нестабилност (MSI), туморен мутационен товар (TMB)  Clinical Exome Sequencing туморна тъкан/FFPE 3900 лв. / 1994.04 EUR 40 работни дни
169
Таргетно секвениране на панел от гени при солидни тумори във връзка с избор на терапия
Анализ на соматични ДНК варианти  (SNVs, InDels,SVs, CNVs) в панел от 95 гени при солидни тумори Clinical Exome Sequencing туморна тъкан/FFPE 1600 лв. / 818.07 EUR 40 работни дни
170
Prognostic markers in tumors of the central nervous system
mutaions in exon 4 of IDH1 gene and exon 4 of IDH2 gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 170 BGN 15 working days
171 Large deletions/ insertions and rearrangements in chromosome 1p/19q MLPA Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
172 large deletins/duplications rearrangements PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes MLPA Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
173
Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc.
Mutations in ATRX gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 600 BGN 30 working days
174 Large deletins/insertions in ATRX gene MLPA Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
175
Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Mutation in promoter region of TERT gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 70 BGN 30 working days
176 Mutations in exon 2 of H3F3A gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 70 BGN 30 working days
177 Mutations in exon 1 of HIST1H3B and HIST1H3C genes. Direct Sequencing Tumor tissue - FFPE or fresh frozen 110 BGN 30 working days
178
Diagnostic marker for the presence of DICER1 syndrome
Mutations in DICER1 gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 470 BGN 30 working days
179
Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Mutations in exons 8, 9, 11, 13, 14, 17 and 18 of сKIT gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 195 BGN 15 working days
180 Mutations in exons 12, 14 и 18 of PDGFRA gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 130 BGN 15 working days
181 Mutations in exons 9 and 11 of сKIT gene, and mutations in exon 18 of PDGFRA gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 165 BGN 15 working days
182 Mutations in exons 8, 13, 14, 17 and 18 of сKIT gene, exons 12 and 14 of PDGFRA gene and exon 15 of BRAF gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 210 BGN 15 working days
183
Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)
Mutations in exon 15 of BRAF gene Direct Sequencing 5-7 ml of blood, with EDTA / Tumor tissue - FFPE or fresh frozen 90 BGN 15 working days
184
Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/
Mutations in TP53 gene Direct Sequencing 5-7 ml of blood, with EDTA 250 BGN 15 working days
185 Анализ на TP53 гена, WES Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 40 работни дни
186
Chronic lymphocytic leukemia / CLL / predictive marker for targeted therapy
Duplications/ deletions of 17p13 (TP53 gene), 13q14 (RB1/DLEU/MIR15A-region), 11q22 (ATM, trisomy 12) MLPA 5-7 ml. of blood, with EDTA 220 BGN 15 working days
187
Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome)
3 polymorphisms in CYP2C9 and VKORC1 genes (CYP2C92, CYP2C93, VKORC1-1639G>A) HRM 5-7 ml of blood, with EDTA 100 BGN 15 working days
188
Optimization of platelet antiplatelet therapy clopidogrel (Plavix)
2 polymorphisms in CYP2C9 gene (CYP2C19*2, CYP2C19*17) HRM 5-7 ml of blood, with EDTA 90 BGN 15 working days
189
Optimization of methotrexate therapy
5 polymorphic variants in MTHFR and ABCB1 genes HRM 5-7 ml of blood, with EDTA 130 BGN 15 working days
190
Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis
7 polymorphisms in NAT2 gene Direct Sequencing 5-7 ml of blood, with EDTA 160 BGN 15 working days
191
Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine
Variants DPYD∗2A, DPYD∗13, c.2846A>T, and c.1236G>A. Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 15 working days
192
Minimal residual disease in patients with neuroblastoma
Panel of two (TH and PHOX2B) expression markers in patients with Neuroblastoma RT- PCR 2-4 ml blood, with EDTA ; 1 ml bone narrow biopsy 300 BGN 15 working days
193
Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
17 variants in the gene TPMT (TPMT *2, TPMT *3A, TPMT *3B, TPMT *3C, TPMT *3D, TPMT *4, TPMT* 6, TPMT *8, TPMT *9, TPMT*10, TPMT *11, TPMT *12, TPMT *13, TPMT *16, TPMT *17, TPMT *18, TPMT *24) Direct Sequencing 5-7 ml of blood, with EDTA 240 BGN 15 working days
194 18 variants in NUDT15 gene (NUDT15 *2, NUDT15 *3, NUDT15*4, NUDT15*5, NUDT15*6, NUDT15*7, NUDT15*8, NUDT15*9, NUDT15*10, NUDT15*11-NUDT15*19) Direct Sequencing 5-7 ml of blood, with EDTA 170 BGN 15 working days
195
Slow metabolizers by CYP2C9
CYP2C9*2 ( rs1799853, c.430C>T) CYP2C9*3(rs1057910,c.1075A>C) Direct Sequencing 5-7 ml of blood, with EDTA 100 BGN 15 working days
196
Slow metabolizers by CYP2C19
CYP2C19*2 ( rs4244285, c.681 G>A) CYP2C19*3 ( rs4986893, c.636G > A) Direct Sequencing 5-7 ml of blood, with EDTA 100 BGN 15 working days
197
Slow metabolizers by CYP2D6
CYP2D6*3 ( rs35742686, 2550 Del A) CYP2D6*4 ( rs3892097, 1846G > A) Direct Sequencing 5-7 ml of blood, with EDTA 140 BGN 15 working days
198
Diagnostic markers in brain, rhabdoid, solid and other tumors
Mutations in SMARCB1 gene Direct Sequencing 5-7 ml of blood, with EDTA/ Tumor tissue - FFPE or fresh frozen 160 BGN 30 working days
199 Deletions/duplications in region 22q11.21-q12.2, including TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1(INI1), SNRPD3, SEZ6L, NIPSNAP1 genes MLPA 5-7 ml of blood, with EDTA / Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
Next generation sequencing - Panels
200
Extended gene panel analysis for familial oncological diseases and interpretation
Mutations in 233 genes associated with oncology diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
201
Whole Exome Sequencing (WES) and interpretation of the clinical exome
Mutations in 5227 genes associated with hereditary diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
202
Whole Exome Sequencing (WES) without analysis and interpretation
Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30 Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
Carrier Testing
203
Carrier testing in a family with a known genetic cause of hereditary disease
Analysis of SINGLE gene mutation in 1 relative Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 7 working days
204
Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS)
Confirmation Analysis of SINGLE Gene mutation after Next Generation Sequencing (NGS) Direct Sequencing 5-7 ml of blood, with EDTA 110 BGN 7 working days
205
Потвърдителен анализ /сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)
Конкретни Делеции/дупликации,пренареждания в различни части на генома, открити при секвениране от ново поколение (NGS)  с микрочип Chromosomal Microarray Analysis (аCGH) 5-7 мл кръв, с EDTA 1000 лв. / 511.29 EUR 15 работни дни
206
Потвърдителен анализ /сегрегация на аберации, открити чрез микрочипов анализ и NGS
Делеции/дупликации пренареждания в известни геномни райони MLPA 5-7 мл кръв, с EDTA 300 лв. / 153.39 EUR 15 работни дни
207
Потвърдителен анализ /сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)
Делеции/дупликации пренареждания в известни геномни райони RT- PCR 5-7 мл кръв, с EDTA 150 лв. / 76.69 EUR 20 работни дни
Microarray analysis
208
Microdeletion / microduplication syndromes
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2 Chromosomal Microarray Analysis (аCGH) DNA 1200 BGN 15 working days
209
Neurodevelopmental disorders/Autism spectrum disorders
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2 Chromosomal Microarray Analysis (аCGH) DNA 1200 BGN 15 working days
210
Congenital anomalies and malformative syndromes / miscarriages
Microarray analysis with Unrestricted HD-CGH array ISCA v2, 4x44K Chromosomal Microarray Analysis (аCGH) DNA 1100 BGN 15 working days
Genomic Imprinting Syndromes
211
Prader Willi/Angelman syndromes
Large deletions/ insertions and rearrangements and methylation profile in genome region 15q11- PWS/AS MS-MLPA DNA 260 BGN 15 working days
212
Russell-Silver/Beckwith-Wiedemann syndromes
Large deletions/ insertions and rearrangements and methylation profile in genome region 11p15BWS/RSS MS-MLPA DNA 260 BGN 15 working days
213
Angelman syndromes
Mutations in UBE3A gene (exons 8-17) Direct Sequencing DNA 220 BGN 30 working days
214
Изследване на унипарентна дизомия
Хромозоми 14 и 7, с метилационен MLPA  MS-MLPA ДНК 300 лв. / 153.39 EUR 15 работни дни
DNA Banking
215
DNA banking
DNA extraction of 1-3 ml blood DNA Extraction by Magnetic Separation 1-3 ml of blood, with EDTA 20 BGN 2 working days
216 DNA extraction of 4-6 ml blood DNA Extraction by Magnetic Separation 4-6 ml of blood, with EDTA 35 BGN 2 working days
217 DNA extraction of 7-10 ml blood DNA Extraction by Magnetic Separation 7-10 ml of blood, with EDTA 40 BGN 2 working days
218 DNA extracion and storage from fresh/frozen tissue DNA Extraction by Column Method tumor tissue/normal tissue 25 BGN 2 working days
219 DNA extracion and storage from FFPE DNA Extraction by Column Method FFPE 25 BGN 3 working days
220 DNA extracion and storage from 1 ml saliva DNA Extraction by Column Method saliva 15 BGN 2 working days
Services by request
221
Sequencing at the customer's request
1 fragment up to 700 bases with customer'sprimers Direct Sequencing DNA 30 BGN 5 working days
222 24 fragments up to 700 bases with customer's primers Direct Sequencing DNA 340 BGN 5 working days
223 96 fragments up to 700 bases with customer's primers Direct Sequencing DNA 1200 BGN 7 working days
224
Fragment analysis at the customer's request
1 sample for 1 microsatellite marker and customer's primers Fragment Analysis DNA 30 BGN 5 working days
225 1 sample for 24 microsatellites marker and customer's primers Fragment Analysis DNA 210 BGN 5 working days
226 1 sample for 96 microsatellite markers and customer's primers Fragment Analysis DNA 800 BGN 6 working days
227
Microarray scanning at the customer's request
1 microarray Agilent скенер G2565CA, Feature Extraction microarray 20 BGN 1 working days
228
Microarray scanning and bioinformatics analysis at the customer's request
1 microarray Agilent скенер G2565CA, Feature Extraction microarray 50 BGN 1 working days
229
Comprehensive bioinformatics analysis and interpretation of NGS data
Gene panel of 5 227 genes, associated with inhereted diseases VarSeq Software .bam files 600 BGN 40 working days
230 Whole exome - 19 396 RefSeq genes. Read depth - average coverage >=50X, guaranteed >= 85%bases with quality score >=Q30 VarSeq Software .fastq .bam .bed .vcf files 800 BGN 40 working days
231
Genetic counseling, Professor
Clinical interpretation and result, prepared and signed by a medical genetics specialist Other 80 BGN
232
Genetic counseling, Medical doctor
Clinical interpretation and result, prepared and signed by a medical genetics specialist Other 60 BGN
Services With Reagents Provided by Ministry of Health
233
Microarray analysis with reagents provided by the Ministry of Health
1 patient Chromosomal Microarray Analysis (аCGH) 5-7 ml of blood, with EDTA 220 BGN 15 working days
234
Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health
1 patient Clinical Exome Sequencing 5-7 ml of blood, with EDTA 850 BGN 50 working days
235
Цялостно геномно секвениране с анализ и интерпретация
1 пациент Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1200 лв. / 613.55 EUR 60 работни дни
236
Congenital adrenal hyperplasia (21 hydroxylase deficiency)
Mutations in CYP21A2 gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 500 BGN 30 working days
237
Neurofibromatosis type 1
Analysis of the NF1 gene for large deletions / insertions and rearrangements MLPA 5-7 ml of blood, with EDTA 150 BGN 15 working days
238
Neurofibromatosis type 2
Analysis of the NF2 gene for large deletions / insertions and rearrangements MLPA 5-7 ml of blood, with EDTA 180 BGN 15 working days
239
Growth deficiency
Analysis of the IGF1R gene for large deletions / amplifications MLPA 5-7 ml. of blood, with EDTA 150 BGN 15 working days
240
Chromosomal copy number changes in childhood solid tumors (Neublastoma / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor) with reagents provided by the Ministry of Health
MYCN Amplification Study, Chromosome Aberrations 1, 2, 3, 4, 7, 9, 11, 12, 14, 17 MLPA Tumor tissue - FFPE or fresh frozen 150 BGN 15 working days
241
Детски солидни тумори
Анализ и интерпретация на соматични варианти в панел от гени, свързани с детски солидни тумори Clinical Exome Sequencing 5-7 мл кръв, с EDTA 400 лв. / 204.52 EUR 40 работни дни
Цялостно геномно секвениране (WGS)
242
Цялостно геномно секвениране с анализ и интерпретация на панел от до 100 гени
Секвениране на >20 000 RefSeq ядрени гени, включително SNVs, InDels,SVs, CNVs. Дълбочина на четене: средно покритие ≥30X, гарантирани ≥ 97% на бази с качество ≥Q10; анализ и интерпретация на панел от до 100 гени, свързани с конкретното заболяване Clinical Exome Sequencing 5-7 мл кръв, с EDTA 1900 лв. / 971.45 EUR 40 работни дни
243
Цялостно геномно секвениране с анализ и интерпретация на панел от 100 до 200 гени
Секвениране на >20 000 RefSeq ядрени гени, включително SNVs, InDels,SVs, CNVs. Дълбочина на четене: средно покритие ≥30X, гарантирани ≥ 97% на бази с качество ≥Q10; анализ и интерпретация на панел от 100 до 200 гени, свързани с конкретното заболяване Clinical Exome Sequencing 5-7 мл кръв, с EDTA 2100 лв. / 1073.71 EUR 50 работни дни
244
Цялостно геномно секвениране с анализ и интерпретация на панел от 200 до 500 гени
Секвениране на >20 000 RefSeq ядрени гени,включително SNVs, InDels,SVs, CNVs. Дълбочина на четене: средно покритие ≥30X, гарантирани ≥ 97% на бази с качество ≥Q10; анализ и интерпретация на панел от 200 до 500 гени, свързани с конкретното заболяване Clinical Exome Sequencing 5-7 мл кръв, с EDTA 2300 лв. / 1175.97 EUR 50 работни дни
245
Цялостно геномно секвениране и анализ и интерпретация на панел от над 500 гени
Clinical Exome Sequencing Секвениране на >20 000 RefSeq ядрени гени, включително SNVs, InDels,SVs, CNVs. Дълбочина на четене: средно покритие ≥30X, гарантирани ≥ 97% на бази с качество ≥Q10; анализ и интерпретация на панел от над 500 гени, свързани с конкретното заболяване 2500 лв. / 1278.23 EUR 50 работни дни
246
Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)
Анализ и интерпретация на данни от Цялостно геномно секвениране (WGS), включващ екзомен панел от всички известни гени, асоциирани с наследствени заболявания VarSeq Software fatsq/bam/vcf (файлове) 900 лв. / 460.16 EUR 40 работни дни
247 Анализ и интерпретация на данни от Цялостно геномно секвениране (WGS), включващ SNVs, InDels,SVs, CNVs, асоциирани с наследствени заболявания  VarSeq Software fatsq/bam/vcf (файлове) 1200 лв. / 613.55 EUR 40 работни дни