Requests and Consent Forms
Test 1.
6 recurrent mutation of BRCA1 and BRCA2 genes in Bulgarian population
Test 2.
Germline mutations in the BRCA1 and BRCA2 genes
Test 3.
Somatic mutations in the BRCA1 and BRCA2 genes
Test 4.
Large deletion/insertion rearrangements in the BRCA1 gene
Test 5.
Large deletion/insertion rearrangements in the BRCA2 gene
Test 6.
Detection of homologous recombination deficiency (HRD)
Test 7.
Cancer panel of 31 genes associated with HBOC
Test 8.
Microsatellite instability of a panel of 10 markers (normal sample/tumor)
Test 9.
Mutations in 38 colorectal cancer associated genes
Test 10.
HNPCC (Lynch syndrome) - Mutations in MLH1 gene
Test 11.
HNPCC (Lynch syndrome) - Mutations in MSH2 gene
Test 12.
HNPCC (Lynch syndrome) - Mutations in MSH6 gene
Test 13.
Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes
Test 14.
A panel of 5 genes associated with HNPCC
Test 15.
Mutation in 43 associated genes with hereditary gastrointestinal tumors, colorectal and stomac cancer or polyps developmental risk
Test 16.
Mutations in exon 16 of APC gene
Test 17.
Mutations in APC gene (excluding exon 16)
Test 18.
Mutations in APC gene
Test 19.
Large deletions/ insertions and rearrangements in APC gene
Test 20.
Mutations in RET gene
Test 21.
Mutations in MEN1 gene
Test 22.
Mutations in exons 10, 11, 13, 14, 15, 16 of RET gene (covering 90% of the known mutations)
Test 23.
Mutations in all exons of RET gene (excluding exons 10, 11, 13, 14, 15, 16)
Test 24.
Mutations in RET gene
Test 25.
Mutations in TP53 gene
Test 26.
Large deletions/ insertions and rearrangements in TP53 gene
Test 27.
A panel of 35 genes associated with prostate cancer
Test 28.
A panel of 321 genes associated with hematologic oncologic diseases
Test 29.
Mutations in 20 genes associated with Hereditary Paraganglioma/ Pheochromocytoma
Test 30.
Mutations in 36 genes associated with CNS/ PNS tumors
Test 31.
Mutations in 36 panel genes
Test 32.
Mutations in 16 medulloblastoma associated gene panel
Test 33.
Mutations in 10 sarcoma associated gene panel
Test 34.
Mutation in 2 associated with hereditary neuroblastoma gene panel (ALK and PHOX2B)
Test 35.
Analysis of deep intronic variants
Test 36.
Analysis of the NF1 gene for large deletions / insertions and rearrangements
Test 37.
Analysis of the NF2 gene for large deletions / insertions and rearrangements
Test 38.
Mutations in SCN1A gene
Test 39.
Deletions/duplications and rearrangements of SCN1A gene
Test 40.
Mutations, deletions/duplications and rearrangements in SCN1A gene
Test 41.
Mutations in KCNQ2 gene
Test 42.
Deletions/duplications and rearrangements of KCNQ2 gene
Test 43.
Mutations, deletions/duplications and rearrangements of KCNQ2 gene
Test 44.
Mutations in SLC2A1(GLUT1) gene
Test 45.
Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 46.
Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 47.
Mutations in 516 epileptic encephalopathies associated genes
Test 48.
Mutation in 84 autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) genes
Test 49.
Mutations in 1089 epilepsy and epileptic syndromes associated genes
Test 50.
Mutations in 24 nuclear encoded genes
Test 51.
Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation
Test 52.
Mutations in 1131 autistic associated genes
Test 53.
Mutations in SPG4 gene
Test 54.
Mutations in 111 hereditary spastic paraplegia associated genes
Test 55.
Hotspot mutation p.L78X in SPG7 gene
Test 56.
Mutations in 281 genes associated with hereditary motor and sensory neuropathies
Test 57.
Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia
Test 58.
Mutations in 68 cerebellar hypoplasia associated genes
Test 59.
Mutations in 288 arthrogryposis associated genes
Test 60.
Mutations in 496 neuromuscular disease associated genes
Test 61.
APOE E2/E3/E4 allele genotyping
Test 62.
A panel of 40 genes associated with AD
Test 63.
A panel of 86 genes associated with PD
Test 64.
A panel of 47 dementia associated genes
Test 65.
A panel of 23 genes associated with FTD
Test 66.
A panel of 82 genes associated with ALS
Test 67.
Copy number varioations in C9orf72
Test 68.
Mutations in 1360 genes associated with chorea, dystonia and other movement disorders
Test 69.
Mutations in 2938 genes associated with childhood onset leukodystrophy
Test 70.
Mutations in 232 genes associated with leukodystrophy with brain calcifications
Test 71.
Mutations in 84 genes associated with late-onset leukodystrophy
Test 72.
Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood
Test 73.
Mutations in ABCA4 gene- coding and non-coding regions
Test 74.
Large deletions/insertions in the ABCA4 gene
Test 75.
Mutations in a panel of 14 genes associated with Stargardt disease
Test 76.
Mutations in BEST1 gene
Test 77.
Mutations in a panel of 30 genes associated with macular degeneration
Test 78.
Mutations in CYP1B1 gene
Test 79.
Mutation p.R299X in LTBP2 gene
Test 80.
Mutations in MYOC gene
Test 81.
Mutations in 25 genes associated with glaucoma
Test 82.
Mutations in CRX and GUCY2D genes and exon 15 in RPGR-ORF15 gene
Test 83.
Mutations in ABCA4 gene – coding and non-coding regions
Test 84.
Large deletions/insertions in the ABCA4 gene
Test 85.
Mutations in 42 genes, associated with cone-rod retinal degeneration
Test 86.
Mutations in RPE65 gene
Test 87.
Mutations in CRX, IMPDH1 и OTX2 genes
Test 88.
Mutations in 26, associated with Leber congenital amaurosis
Test 89.
Mutations in 3 mitochondrial genes- MT-ND1, MT-ND4 и MT-ND6
Test 90.
Mutations in RHO, PRPH2/RDS, PRPF31 and IMPDH1 genes and exon 15 in RPGR-ORF15 gene
Test 91.
Mutations in USH2A, CRB1 и RHO genes and exon 15 in RPGR-ORF15 gene
Test 92.
exon 15 in RPGR-ORF15 gene
Test 93.
Mutations in RPE65 gene
Test 94.
Mutations in BEST1 gene
Test 95.
Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes
Test 96.
Large deletions/insertions in the USH2A
Test 97.
Large deletions/insertions in EYS gene
Test 98.
Mutations in 341 genes, associated with Retinitis pigmentosa
Test 99.
Mutations in 341 genes assotiated with retinal degeneration
Test 100.
Mutations in USH2A gene
Test 101.
Large insertions/deletions in USH2A gene
Test 102.
Mutations in 27 genes associated with Bardet-Biedl syndrome
Test 103.
Mutations in 14 genes associated with Congenital stationary night blindness
Test 104.
Mutations in RS1 gene
Test 105.
Mutations in RB1 gene
Test 106.
Hot-spot mutations in RB1 gene (exons 8,10,11,14,15,17,18,23)
Test 107.
Mutations in 90 genes associated with cataract
Test 108.
Mutations in GJB2(Cx26) gene
Test 109.
Mutations in GJB3 (Cx31) gene
Test 110.
Mutations in 4 mitochondrial genes- MT-RNR1, MT-TS1 , MT-TL1 , MT-TK
Test 111.
Mutations in 594 genes associated with hearing loss
Test 112.
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)
Test 113.
Screening for mutations in the coding regions of NHPS1 and NPHS2 genes as well as exons 8 and 9 of WT1 gene
Test 114.
mutations in 26 genes associated with nephrotic syndrome
Test 115.
Screening for mutations in the coding regions of HNF1B and PAX2 genes
Test 116.
Screening for mutations in the coding regions of 214 CAKUT associated genes
Test 117.
Screening for large deletions/duplications affecting the HNF1B gene
Test 118.
Screening for mutations in the coding regions of UMOD gene
Test 119.
Mutation panel 250 genes
Test 120.
Mutations in 810 genes associated with endocrine diseases
Test 121.
Mutations in 10 genes associated with pituitary gland diseases
Test 122.
Mutations in 24 genes associated with thyroid gland diseases
Test 123.
Mutations in TPO gene
Test 124.
Large deletions/ insertions and rearrangements in TPO, PAX8, FOXE1, NKX2-1 и TSHR genes
Test 125.
Mutations in GH1 gene
Test 126.
Mutations in 10 genes associated with IGHD
Test 127.
Mutations in CYP21A2 gene
Test 128.
Large deletions/ insertions and rearrangements in HNF4A, GCK, HNF1A and HNF1B genes
Test 129.
Mutations in HNF1B gene
Test 130.
Mutatins in 15 genes associated with MODY
Test 131.
Mutations in 536 genes associated with inherited cardiovascular diseases
Test 132.
Mutations in 37 mitochondial genes associated with mitochondrial diseases
Test 133.
Mutations in 266 nuclear genes associated with mitochondrial diseases
Test 134.
Mutations in panel of 224 genes
Test 135.
Mutations in panel of 113 genes
Test 136.
Mutations in panel of 597 genes
Test 137.
Mutations in panel ot 204 genes
Test 138.
Mutations in panel of 801 genes
Test 139.
Mutation is panel of 456 genes
Test 140.
Mutations in panel of 423 genes
Test 141.
Mutations in panel of 212 genes
Test 142.
Mutations in panel of 209 genes
Test 143.
Mutations in panel of 1012 genes
Test 144.
Mutations in exons 2, 3, 6, 8, 9, 10, 13, 15 of PTCH1 gene
Test 145.
Mutations in exons 1, 4, 5, 7, 11, 12, 14, 16, 17, 18, 19, 20, 21 22, 23 of PTCH1 gene
Test 146.
Mutations in PTCH1 gene
Test 147.
mutaions in exon 4 of IDH1 gene and exon 4 of IDH2 gene
Test 148.
Large deletions/ insertions and rearrangements in chromosome 1p/19q
Test 149.
large deletins/duplications rearrangements PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes
Test 150.
Mutations in ATRX gene
Test 151.
Large deletins/insertions in ATRX gene
Test 152.
Mutation in promoter region of TERT gene
Test 153.
Mutations in exon 2 of H3F3A gene
Test 154.
Mutations in exon 1 of HIST1H3B and HIST1H3C genes.
Test 155.
Mutations in DICER1 gene
Test 156.
Mutations in exons 8, 9, 11, 13, 14, 17 and 18 of сKIT gene
Test 157.
Mutations in exons 12, 14 и 18 of PDGFRA gene
Test 158.
Mutations in exons 9 and 11 of сKIT gene, and mutations in exon 18 of PDGFRA gene
Test 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
Test 160.
Mutations in exon 15 of BRAF gene
Test 161.
Mutations in TP53 gene
Test 162.
Duplications/ deletions of 17p13 (TP53 gene), 13q14 (RB1/DLEU/MIR15A-region), 11q22 (ATM, trisomy 12)
Test 163.
3 polymorphisms in CYP2C9 and VKORC1 genes (CYP2C92, CYP2C93, VKORC1-1639G>A)
Test 164.
2 polymorphisms in CYP2C9 gene (CYP2C19*2, CYP2C19*17)
Test 165.
5 polymorphic variants in MTHFR and ABCB1 genes
Test 166.
7 polymorphisms in NAT2 gene
Test 167.
Variants DPYD∗2A, DPYD∗13, c.2846A>T, and c.1236G>A.
Test 168.
Panel of two (TH and PHOX2B) expression markers in patients with Neuroblastoma
Test 169.
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)
Test 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)
Test 171.
CYP2C9*2 ( rs1799853, c.430C>T) CYP2C9*3(rs1057910,c.1075A>C)
Test 172.
CYP2C19*2 ( rs4244285, c.681 G>A) CYP2C19*3 ( rs4986893, c.636G > A)
Test 173.
CYP2D6*3 ( rs35742686, 2550 Del A) CYP2D6*4 ( rs3892097, 1846G > A)
Test 174.
Mutations in SMARCB1 gene
Test 175.
Deletions/duplications in region 22q11.21-q12.2, including TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1(INI1), SNRPD3, SEZ6L, NIPSNAP1 genes
Test 176.
Variants in BMP15 gene
Test 177.
Variants rs6165 and rs6166 in exon 10 of FSHR gene
Test 178.
Mutations in 233 genes associated with oncology diseases
Test 179.
Mutations in 50 genes associated with targeted therapy
Test 180.
Mutations in 5227 genes associated with hereditary diseases
Test 181.
Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30
Test 182.
Analysis of SINGLE gene mutation in 1 relative
Test 183.
Confirmation Analysis of SINGLE Gene mutation after Next Generation Sequencing (NGS)
Test 184.
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2
Test 185.
Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2
Test 186.
Microarray analysis with Unrestricted HD-CGH array ISCA v2, 4x44K
Test 187.
Large deletions / insertions and rearrangements in known genome regions
Test 188.
Large deletions/ insertions and rearrangements and methylation profile in genome region 15q11- PWS/AS
Test 189.
Large deletions/ insertions and rearrangements and methylation profile in genome region 11p15BWS/RSS
Test 190.
Mutations in UBE3A gene (exons 8-17)
Test 191.
DNA extraction of 1-3 ml blood
Test 192.
DNA extraction of 4-6 ml blood
Test 193.
DNA extraction of 7-10 ml blood
Test 194.
DNA extracion and storage from fresh/frozen tissue
Test 195.
DNA extracion and storage from FFPE
Test 196.
DNA extracion and storage from 1 ml saliva
Test 197.
1 fragment up to 700 bases with customer'sprimers
Test 198.
24 fragments up to 700 bases with customer's primers
Test 199.
96 fragments up to 700 bases with customer's primers
Test 200.
1 sample for 1 microsatellite marker and customer's primers
Test 201.
1 sample for 24 microsatellites marker and customer's primers
Test 202.
1 sample for 96 microsatellite markers and customer's primers
Test 203.
1 microarray
Test 204.
1 microarray
Test 205.
Gene panel of 5 227 genes, associated with inhereted diseases
Test 206.
Whole exome - 19 396 RefSeq genes. Read depth - average coverage >=50X, guaranteed >= 85%bases with quality score >=Q30
Test 207.
Clinical interpretation and result, prepared and signed by a medical genetics specialist
Test 208.
Clinical interpretation and result, prepared and signed by a medical genetics specialist
Test 209.
1 patient
Test 210.
1 patient
Test 211.
1 patient
Test 212.
Analysis of the NF1 gene for large deletions / insertions and rearrangements
Test 213.
Analysis of the NF2 gene for large deletions / insertions and rearrangements
Test 214.
Analysis of the IGF1R gene for large deletions / amplifications
Test 215.
MYCN Amplification Study, Chromosome Aberrations 1, 2, 3, 4, 7, 9, 11, 12, 14, 17