Price
Test Disease Scope and Object Method Material Price Deadline
Inherited Oncological Diseases
1
Hereditary Breast and Ovarian Cancer (HBOC)
6 recurrent mutation of BRCA1 and BRCA2 genes in Bulgarian population Direct Sequencing 5-7 ml. of blood, with EDTA 200 BGN 10 working days
2 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
3 Somatic mutations in the BRCA1 and BRCA2 genes Clinical Exome Sequencing, Confirmation by Sanger Sequencing Tumor tissue 900 BGN 30 working days
4 Large deletion/insertion rearrangements in the BRCA1 gene MLPA 5-7 ml. of blood, with EDTA 220 BGN 10 working days
5 Large deletion/insertion rearrangements in the BRCA2 gene MLPA 5-7 ml of blood, with EDTA 220 BGN 10 working days
6 Detection of homologous recombination deficiency (HRD) Clinical Exome Sequencing, Bioinformation Analysis Tumor tissue 2300 BGN 30 working days
7 Cancer panel of 31 genes associated with HBOC Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 30 working days
8
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
9 Mutations in 38 colorectal cancer associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
10 HNPCC (Lynch syndrome) - Mutations in MLH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
11 HNPCC (Lynch syndrome) - Mutations in MSH2 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
12 HNPCC (Lynch syndrome) - Mutations in MSH6 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 30 working days
13 Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
14 A panel of 5 genes associated with HNPCC Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
15
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
16
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
17 Mutations in APC gene (excluding exon 16) Direct Sequencing 5-7 ml of blood, with EDTA 245 BGN 15 working days
18 Mutations in APC gene Direct Sequencing 5-7 ml of blood, with EDTA 480 BGN 30 working days
19 Large deletions/ insertions and rearrangements in APC gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
20
Hirschsprung's disease
Mutations in RET gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
21
Multiple Endocrine Neoplasia (MEN)
Mutations in MEN1 gene Direct Sequencing 5-7 ml of blood, with EDTA 250 BGN 15 working days
22 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
23 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
24 Mutations in RET gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
25
Li-Fraumeni syndrome
Mutations in TP53 gene Direct Sequencing 5-7 ml of blood, with EDTA 250 BGN 15 working days
26 Large deletions/ insertions and rearrangements in TP53 gene MLPA 5-7 ml of blood, with EDTA or tumor tissue 220 BGN 15 working days
27
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
28
Hematologic Oncologic Diseases
A panel of 321 genes associated with hematologic oncologic diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
29
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
30
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
31
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
32
Мedulloblastoma
Mutations in 16 medulloblastoma associated gene panel Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
33
Sarcoma
Mutations in 10 sarcoma associated gene panel Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
34
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
35
Neurofibromatosis type 1
Analysis of deep intronic variants Direct Sequencing 5-7 ml of blood, with EDTA 300 BGN 15 working days
36 Analysis of the NF1 gene for large deletions / insertions and rearrangements MLPA 5-7 ml of blood, with EDTA 400 BGN 15 working days
37
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
Neurological Epilepsy
38
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
39 Deletions/duplications and rearrangements of SCN1A gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
40 Mutations, deletions/duplications and rearrangements in SCN1A gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 630 BGN 30 working days
41
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
42 Deletions/duplications and rearrangements of KCNQ2 gene MLPA 5-7 ml of blood, with EDTA 220 BGN 15 working days
43 Mutations, deletions/duplications and rearrangements of KCNQ2 gene Direct Sequencing, MLPA 5-7 ml of blood, with EDTA 500 BGN 30 working days
44
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
45 Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
46 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
47
Epileptic encephalopathies
Mutations in 516 epileptic encephalopathies associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
48
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
49
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
50
Мigraine
Mutations in 24 nuclear encoded genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
51
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
52
Autism
Mutations in 1131 autistic associated genes Clinical Exome Sequencing 5-7 ml blood, with EDTA 1600 BGN 50 working days
Neurodegenerative Diseases
53
Hereditary spastic paraplegia
Mutations in SPG4 gene Direct Sequencing 5-7 ml of blood, with EDTA 350 BGN 30 working days
54 Mutations in 111 hereditary spastic paraplegia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
55
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
56
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
57
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
58
Cerebellar hypoplasia
Mutations in 68 cerebellar hypoplasia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
59
Arthrogryposis
Mutations in 288 arthrogryposis associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
60
Neuromuscular diseases
Mutations in 496 neuromuscular disease associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
61
Alzheimer's disease
APOE E2/E3/E4 allele genotyping Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 15 working days
62 A panel of 40 genes associated with AD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
63
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
64
Dementia
A panel of 47 dementia associated genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
65
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
66
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
67
Amyotrophic lateral sclerosis/ Frontotemporal degeneration
Copy number varioations in C9orf72 Fragment Analysis 5-7 ml of blood, with EDTA 80 BGN 20 working days
68
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
69
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
70
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
71
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
72
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
Ocular Diseases
73
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
74 Large deletions/insertions in the ABCA4 gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
75 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
76 Mutations in BEST1 gene Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 10 working days
77 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
78
Glaucoma
Mutations in CYP1B1 gene Direct Sequencing 5-7 ml of blood, with EDTA 260 BGN 30 working days
79 Mutation p.R299X in LTBP2 gene Direct Sequencing 5-7 ml of blood, with EDTA 90 BGN 10 working days
80 Mutations in MYOC gene Direct Sequencing 5-7 ml of blood, with EDTA 130 BGN 10 working days
81 Mutations in 25 genes associated with glaucoma Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
82
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
83 Mutations in ABCA4 gene – coding and non-coding regions Direct Sequencing 5-7 ml of blood, with EDTA 650 BGN 30 working days
84 Large deletions/insertions in the ABCA4 gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
85 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
86
Leber hereditary optic neuropathy
Mutations in RPE65 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 10 working days
87 Mutations in CRX, IMPDH1 и OTX2 genes Direct Sequencing 5-7 ml of blood, with EDTA 450 BGN 30 working days
88 Mutations in 26, associated with Leber congenital amaurosis Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
89 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
90
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
91 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
92 exon 15 in RPGR-ORF15 gene Direct Sequencing 5-7 ml. of blood, with EDTA 90 BGN 20 working days
93 Mutations in RPE65 gene Direct Sequencing 5-7 ml of blood, with EDTA 230 BGN 10 working days
94 Mutations in BEST1 gene Direct Sequencing 5-7 ml of blood, with EDTA 200 BGN 10 working days
95 Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
96 Large deletions/insertions in the USH2A MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
97 Large deletions/insertions in EYS gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
98 Mutations in 341 genes, associated with Retinitis pigmentosa Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
99
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
100 Mutations in USH2A gene Direct Sequencing 5-7 ml of blood, with EDTA 880 BGN 40 working days
101 Large insertions/deletions in USH2A gene MLPA 5-7 ml of blood, with EDTA 350 BGN 30 working days
102
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
103
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
104
Retinoschisis
Mutations in RS1 gene Direct Sequencing 5-7 ml of blood, with EDTA 110 BGN 10 working days
105
Retinoblastoma
Mutations in RB1 gene Direct Sequencing 5-7 ml of blood, with EDTA 325 BGN 20 working days
106 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
107
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
108
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
109 Mutations in GJB3 (Cx31) gene Direct Sequencing 5-7 ml of blood, with EDTA 120 BGN 10 working days
110 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
111 Mutations in 594 genes associated with hearing loss Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
112
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
113
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
114 mutations in 26 genes associated with nephrotic syndrome Other 5-7 ml of blood, with EDTA 1200 BGN 40 working days
115
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
116 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
117 Screening for large deletions/duplications affecting the HNF1B gene MLPA 5-7 ml of blood, with EDTA 220 BGN 30 working days
118
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
119
Ciliopathies
Mutation panel 250 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Endocrinological and Liver Diseases
120
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
121
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
122
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
123 Mutations in TPO gene Direct Sequencing 5-7 ml of blood, with EDTA 280 BGN 30 working days
124 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
125
Isolated growth hormone deficiency
Mutations in GH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 130 BGN 30 working days
126 Mutations in 10 genes associated with IGHD Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1200 BGN 40 working days
127
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
128
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
129 Mutations in HNF1B gene Direct Sequencing 5-7 ml blood, with EDTA 190 BGN 30 working days
130 Mutatins in 15 genes associated with MODY Clinical Exome Sequencing 5-7 ml blood, with EDTA 1200 BGN 40 working days
Cardiovascular Diseases
131
Cardiological diseases
Mutations in 536 genes associated with inherited cardiovascular diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
Mitochondrial and Metabolic Diseases
132
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
133 Mutations in 266 nuclear genes associated with mitochondrial diseases Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Connective Tissue Diseases
134
Connective tissue diseases
Mutations in panel of 224 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
135
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
136
Skeletal dysplasias
Mutations in panel of 597 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
Liver
137
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
138
Immune diseases
Mutations in panel of 801 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1600 BGN 50 working days
Hematological Diseases
139
Hematological diseases
Mutation is panel of 456 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
Others
140
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
141
Reproductive panel - women
Mutations in panel of 212 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
142
Reproductive panel - men
Mutations in panel of 209 genes Clinical Exome Sequencing 5-7 ml of blood, with EDTA 1400 BGN 50 working days
143
Metabolic diseases
Mutations in panel of 1012 genes Clinical Exome Sequencing 5-7 ml of blood, wih EDTA 1600 BGN 50 working days
144
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
145 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
146 Mutations in PTCH1 gene Direct Sequencing 5-7 ml of blood, with EDTA 450 BGN 30 working days
Biomarkers and Individualized Therapy (pharmacogenomics)
147
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
148 Large deletions/ insertions and rearrangements in chromosome 1p/19q MLPA Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
149 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
150
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
151 Large deletins/insertions in ATRX gene MLPA Tumor tissue - FFPE or fresh frozen 220 BGN 30 working days
152
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
153 Mutations in exon 2 of H3F3A gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 70 BGN 30 working days
154 Mutations in exon 1 of HIST1H3B and HIST1H3C genes. Direct Sequencing Tumor tissue - FFPE or fresh frozen 110 BGN 30 working days
155
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
156
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
157 Mutations in exons 12, 14 и 18 of PDGFRA gene Direct Sequencing Tumor tissue - FFPE or fresh frozen 130 BGN 15 working days
158 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
159 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
160
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
161
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
162
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
163
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
164
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
165
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
166
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
167
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
168
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
169
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
170 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
171
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
172
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
173
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
174
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
175 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
176
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
177 Variants rs6165 and rs6166 in exon 10 of FSHR gene Direct Sequencing 5-7 ml of blood, with EDTA 100 BGN 15 working days
Next generation sequencing - Panels
178
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
179
Analysis of a panel of genes associated with targeted therapy in solid tumors and interpretation
Mutations in 50 genes associated with targeted therapy Clinical Exome Sequencing Tumor tissue 800 BGN 40 working days
180
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
181
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
182
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
183
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
Microarray analysis
184
Microdeletion / microduplication syndromes
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2 Chromosomal Microarray Analysis (аCGH) DNA 1200 BGN 15 working days
185
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
186
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
187
Confirmaton analysis / segregation of aberrations detected by microarray analysis
Large deletions / insertions and rearrangements in known genome regions MLPA DNA 260 BGN 15 working days
Genomic Imprinting Syndromes
188
Prader Willi/Angelman syndromes
Large deletions/ insertions and rearrangements and methylation profile in genome region 15q11- PWS/AS MLPA DNA 260 BGN 15 working days
189
Russell-Silver/Beckwith-Wiedemann syndromes
Large deletions/ insertions and rearrangements and methylation profile in genome region 11p15BWS/RSS MLPA DNA 260 BGN 15 working days
190
Angelman syndromes
Mutations in UBE3A gene (exons 8-17) Direct Sequencing DNA 220 BGN 30 working days
DNA Banking
191
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
192 DNA extraction of 4-6 ml blood DNA Extraction by Magnetic Separation 4-6 ml of blood, with EDTA 35 BGN 2 working days
193 DNA extraction of 7-10 ml blood DNA Extraction by Magnetic Separation 7-10 ml of blood, with EDTA 40 BGN 2 working days
194 DNA extracion and storage from fresh/frozen tissue DNA Extraction by Column Method tumor tissue/normal tissue 25 BGN 2 working days
195 DNA extracion and storage from FFPE DNA Extraction by Column Method FFPE 25 BGN 3 working days
196 DNA extracion and storage from 1 ml saliva DNA Extraction by Column Method saliva 15 BGN 2 working days
Services by request
197
Sequencing at the customer's request
1 fragment up to 700 bases with customer'sprimers Direct Sequencing DNA 30 BGN 5 working days
198 24 fragments up to 700 bases with customer's primers Direct Sequencing DNA 340 BGN 5 working days
199 96 fragments up to 700 bases with customer's primers Direct Sequencing DNA 1200 BGN 7 working days
200
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
201 1 sample for 24 microsatellites marker and customer's primers Fragment Analysis DNA 210 BGN 5 working days
202 1 sample for 96 microsatellite markers and customer's primers Fragment Analysis DNA 800 BGN 6 working days
203
Microarray scanning at the customer's request
1 microarray Agilent скенер G2565CA, Feature Extraction microarray 20 BGN 1 working days
204
Microarray scanning and bioinformatics analysis at the customer's request
1 microarray Agilent скенер G2565CA, Feature Extraction microarray 50 BGN 1 working days
205
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
206 Whole exome - 19 396 RefSeq genes. Read depth - average coverage >=50X, guaranteed >= 85%bases with quality score >=Q30 Other .fastq .bam .bed .vcf files 800 BGN 40 working days
207
Genetic counseling, Professor
Clinical interpretation and result, prepared and signed by a medical genetics specialist Other 80 BGN
208
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
209
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
210
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
211
CYP21A2 gene analysis
1 patient Direct Sequencing, MLPA Analysis of the CYP21A2 gene 250 BGN 30 working days
212
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
213
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
214
Growth deficiency
Analysis of the IGF1R gene for large deletions / amplifications MLPA 5-7 ml. of blood, with EDTA 150 BGN 15 working days
215
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