Direct Sequencing
Test 1.
6 recurrent mutation of BRCA1 and BRCA2 genes in Bulgarian population
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 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 40.
Mutations, deletions/duplications and rearrangements in SCN1A gene
Test 41.
Mutations in KCNQ2 gene
Test 43.
Mutations, deletions/duplications and rearrangements of KCNQ2 gene
Test 46.
Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 55.
Hotspot mutation p.L78X in SPG7 gene
Test 73.
Mutations in ABCA4 gene- coding and non-coding regions
Test 76.
Mutations in BEST1 gene
Test 82.
Mutations in CRX and GUCY2D genes and exon 15 in RPGR-ORF15 gene
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 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 113.
Screening for mutations in the coding regions of NHPS1 and NPHS2 genes as well as exons 8 and 9 of WT1 gene
Test 115.
Screening for mutations in the coding regions of HNF1B and PAX2 genes
Test 132.
Mutations in 37 mitochondial genes associated with mitochondrial diseases
Test 145.
Mutations in exons 1, 4, 5, 7, 11, 12, 14, 16, 17, 18, 19, 20, 21 22, 23 of PTCH1 gene
Test 147.
mutaions in exon 4 of IDH1 gene and exon 4 of IDH2 gene
Test 150.
Mutations 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 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 166.
7 polymorphisms in NAT2 gene
Test 167.
Variants DPYD∗2A, DPYD∗13, c.2846A>T, and c.1236G>A.
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 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 176.
Variants in BMP15 gene
Test 177.
Variants rs6165 and rs6166 in exon 10 of FSHR gene
Test 182.
Analysis of SINGLE gene mutation in 1 relative
Test 183.
Confirmation Analysis of SINGLE Gene mutation after Next Generation Sequencing (NGS)
Clinical Exome Sequencing
Test 6.
Detection of homologous recombination deficiency (HRD)
Test 9.
Mutations in 38 colorectal cancer associated 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 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 34.
Mutation in 2 associated with hereditary neuroblastoma gene panel (ALK and PHOX2B)
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 51.
Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation
Test 54.
Mutations in 111 hereditary spastic paraplegia associated genes
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 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 72.
Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood
Test 75.
Mutations in a panel of 14 genes associated with Stargardt disease
Test 77.
Mutations in a panel of 30 genes associated with macular degeneration
Test 85.
Mutations in 42 genes, associated with cone-rod retinal degeneration
Test 98.
Mutations in 341 genes, associated with Retinitis pigmentosa
Test 99.
Mutations in 341 genes assotiated with retinal degeneration
Test 103.
Mutations in 14 genes associated with Congenital stationary night blindness
Test 111.
Mutations in 594 genes associated with hearing loss
Test 116.
Screening for mutations in the coding regions of 214 CAKUT associated genes
Test 131.
Mutations in 536 genes associated with inherited cardiovascular diseases
Test 133.
Mutations in 266 nuclear genes associated with mitochondrial diseases
Test 140.
Mutations in panel of 423 genes
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
Fragment Analysis
Test 8.
Microsatellite instability of a panel of 10 markers (normal sample/tumor)
Test 67.
Copy number varioations in C9orf72
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
Chromosomal Microarray Analysis (аCGH)
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
MLPA
Test 4.
Large deletion/insertion rearrangements in the BRCA1 gene
Test 5.
Large deletion/insertion rearrangements in the BRCA2 gene
Test 13.
Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes
Test 19.
Large deletions/ insertions and rearrangements in APC gene
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 39.
Deletions/duplications and rearrangements of SCN1A gene
Test 40.
Mutations, deletions/duplications and rearrangements in SCN1A gene
Test 42.
Deletions/duplications and rearrangements of KCNQ2 gene
Test 43.
Mutations, deletions/duplications and rearrangements of KCNQ2 gene
Test 45.
Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 46.
Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene
Test 74.
Large deletions/insertions in the ABCA4 gene
Test 95.
Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes
Test 96.
Large deletions/insertions in the USH2A
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 117.
Screening for large deletions/duplications affecting the HNF1B gene
Test 124.
Large deletions/ insertions and rearrangements in TPO, PAX8, FOXE1, NKX2-1 и TSHR genes
Test 128.
Large deletions/ insertions and rearrangements in HNF4A, GCK, HNF1A and HNF1B genes
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 151.
Large deletins/insertions in ATRX gene
Test 162.
Duplications/ deletions of 17p13 (TP53 gene), 13q14 (RB1/DLEU/MIR15A-region), 11q22 (ATM, trisomy 12)
Test 175.
Deletions/duplications in region 22q11.21-q12.2, including TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1(INI1), SNRPD3, SEZ6L, NIPSNAP1 genes
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 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 215.
MYCN Amplification Study, Chromosome Aberrations 1, 2, 3, 4, 7, 9, 11, 12, 14, 17
RT- PCR
Test 168.
Panel of two (TH and PHOX2B) expression markers in patients with Neuroblastoma
Other
Test 114.
mutations in 26 genes associated with nephrotic syndrome
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
DNA Extraction by Magnetic Separation
DNA Extraction by Column Method
Agilent скенер G2565CA, Feature Extraction
VarSeq Software
Test 205.
Gene panel of 5 227 genes, associated with inhereted diseases
HRM
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)
Confirmation by Sanger Sequencing
Bioinformation Analysis
Test 6.
Detection of homologous recombination deficiency (HRD)