Germline mutations in the BRCA1 and BRCA2 genes

Large deletion/insertion rearrangements in the BRCA1 gene

Large deletion/insertion rearrangements in the BRCA2 gene

Cancer panel of 31 genes associated with HBOC

Microsatellite instability of a panel of 10 markers (normal sample/tumor)

Mutations in 38 colorectal cancer associated genes

HNPCC (Lynch syndrome) - Mutations in MLH1 gene

HNPCC (Lynch syndrome) - Mutations in MSH2 gene

HNPCC (Lynch syndrome) - Mutations in MSH6 gene

Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes

A panel of 5 genes associated with HNPCC

Mutation in 43 associated genes with hereditary gastrointestinal tumors, colorectal and stomac cancer or polyps developmental risk

Mutations in exon 16 of APC gene

Mutations in APC gene (excluding exon 16)

Mutations in APC gene

Large deletions/ insertions and rearrangements in APC gene

Mutations in RET gene

Mutations in MEN1 gene

Mutations in exons 10, 11, 13, 14, 15, 16 of RET gene (covering 90% of the known mutations)

Mutations in all exons of RET gene (excluding exons 10, 11, 13, 14, 15, 16)

Mutations in RET gene

Mutations in TP53 gene

Large deletions/ insertions and rearrangements in TP53 gene

A panel of 35 genes associated with prostate cancer

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рак на панкреаса

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рак на кожата 

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с наследствени онкологични заболявания

Mutations in 20 genes associated with Hereditary Paraganglioma/ Pheochromocytoma

Mutations in 36 genes associated with CNS/ PNS tumors

Mutations in 36 panel genes

Mutation in 2 associated with hereditary neuroblastoma gene panel (ALK and PHOX2B)

Analysis of deep intronic variants

Analysis of the NF1 gene for large deletions / insertions and rearrangements

Analysis of the NF2 gene for large deletions / insertions and rearrangements

Mutations in exons 2, 3, 6, 8, 9, 10, 13, 15 of PTCH1 gene

Mutations in exons 1, 4, 5, 7, 11, 12, 14, 16, 17, 18, 19, 20, 21 22, 23 of PTCH1 gene

Mutations in PTCH1 gene

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с туберозна склероза

Mutations in SCN1A gene

Deletions/duplications and rearrangements of SCN1A gene

Mutations, deletions/duplications and rearrangements in SCN1A gene

Mutations in KCNQ2 gene

Deletions/duplications and rearrangements of KCNQ2 gene

Mutations, deletions/duplications and rearrangements of KCNQ2 gene

Mutations in SLC2A1(GLUT1) gene

Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene

Mutations and deletions/duplications and rearrangements in SLC2A1(GLUT1) gene

Mutations in 516 epileptic encephalopathies associated genes

Mutation in 84 autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) genes

Mutations in 1089 epilepsy and epileptic syndromes associated genes

Mutations in 24 nuclear encoded genes

Mutations in 496 neuromuscular disease associated genes

Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood

Mutations in SPG4 gene

Големи делеции/инсерции и/или пренареждания в SPAST (SPG4) и ATL1 гените

Mutations in 111 hereditary spastic paraplegia associated genes

Hotspot mutation p.L78X in SPG7 gene

Mutations in 281 genes associated with hereditary motor and sensory neuropathies

Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia

Mutations in 68 cerebellar hypoplasia associated genes

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

Mutations in 1131 autistic associated genes

Субтеломерни микроделеции/микродупликации, свързани с изоставане в умственото развитие

Големи делеции/инсерции пренареждания в целия геном, свързани с известни микроделеционни/микродупликационни синдроми

APOE E2/E3/E4 allele genotyping

A panel of 40 genes associated with AD

A panel of 86 genes associated with PD

A panel of 47 dementia associated genes

A panel of 23 genes associated with FTD

A panel of 82 genes associated with ALS

Copy number varioations in C9orf72

Mutations in 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 232 genes associated with leukodystrophy with brain calcifications

Mutations in 84 genes associated with late-onset leukodystrophy

Mutations in ABCA4 gene- coding and non-coding regions

Large deletions/insertions in the ABCA4 gene

Mutations in a panel of 14 genes associated with Stargardt disease

Mutations in BEST1 gene

Mutations in a panel of 30 genes associated with macular degeneration

Mutations in CYP1B1 gene

Mutation p.R299X in LTBP2 gene

Mutations in MYOC gene

Mutations in 25 genes associated with glaucoma

Mutations in CRX and GUCY2D genes and exon 15 in RPGR-ORF15 gene

Mutations in ABCA4 gene – coding and non-coding regions

Large deletions/insertions in the ABCA4 gene

Mutations in 42 genes, associated with cone-rod retinal degeneration

Mutations in RPE65 gene

Mutations in CRX, IMPDH1 и OTX2 genes

Mutations in 26, associated with Leber congenital amaurosis

Mutations in 3 mitochondrial genes- MT-ND1, MT-ND4 и MT-ND6

Mutations in RHO, PRPH2/RDS, PRPF31 and IMPDH1 genes and exon 15 in RPGR-ORF15 gene

Mutations in USH2A, CRB1 и RHO genes and exon 15 in RPGR-ORF15 gene

exon 15 in RPGR-ORF15 gene

Mutations in RPE65 gene

Mutations in BEST1 gene

Large deletions/insertions in the RHO, IMPDH1, RP1 and PRPF31 genes

Large deletions/insertions in the USH2A

Large deletions/insertions in EYS gene

Mutations in 341 genes, associated with Retinitis pigmentosa

Mutations in 341 genes assotiated with retinal degeneration

Mutations in USH2A gene

Large insertions/deletions in USH2A gene

Mutations in 27 genes associated with Bardet-Biedl syndrome

Mutations in 14 genes associated with Congenital stationary night blindness

Mutations in RS1 gene

Mutations in RB1 gene

Hot-spot mutations in RB1 gene (exons 8,10,11,14,15,17,18,23)

Mutations in 90 genes associated with cataract

Mutations in GJB2(Cx26) gene

Mutations in GJB3 (Cx31) gene

Mutations in 4 mitochondrial genes- MT-RNR1, MT-TS1 , MT-TL1 , MT-TK

Mutations in 594 genes associated with hearing loss

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)

Screening for mutations in the coding regions of NHPS1 and NPHS2 genes as well as exons 8 and 9 of WT1 gene

mutations in 26 genes associated with nephrotic syndrome

Screening for mutations in the coding regions of HNF1B and PAX2 genes

Screening for mutations in the coding regions of 214 CAKUT associated genes

Screening for large deletions/duplications affecting the HNF1B gene

Screening for mutations in the coding regions of UMOD gene

Mutation panel 250 genes

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с наследствени бъбречни заболявания

Mutations in 810 genes associated with endocrine diseases

Mutations in 10 genes associated with pituitary gland diseases

Mutations in 24 genes associated with thyroid gland diseases

Mutations in TPO gene

Large deletions/ insertions and rearrangements in TPO, PAX8, FOXE1, NKX2-1 и TSHR genes

Mutations in GH1 gene

Mutations in 10 genes associated with IGHD

Large deletions/ insertions and rearrangements in HNF4A, GCK, HNF1A and HNF1B genes

Mutations in HNF1B gene

Mutatins in 15 genes associated with MODY

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с кардиомиопатии и аритмии

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хиперхолестеролемия 

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хипертриглицеридемия

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна липодистрофия 

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Фамилни заболявания с повишен риск за цереброваскуларен инцидент (инсулт)

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани със Синдром на Ehler-Danlos и свързани заболявания

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна хеморагична телангиектазия и васкуларни малформации  

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с фамилна изолирано или синдромно вродено сърдечно заболяване

Mutations in 37 mitochondial genes associated with mitochondrial diseases

Mutations in 266 nuclear genes associated with mitochondrial diseases

Големи делеции/инсерции пренареждания в митохондриалната ДНК

Mutations in panel of 224 genes

Mutations in panel of 113 genes

Големи делеции/инсерции пренареждания в FBN1 генa

Mutations in panel of 597 genes

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с мулти малформативни заболявания

Mutations in 288 arthrogryposis associated genes

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с IBD с ранно начало 

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Фамилен панкреатит 

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с Болест на Hirschsprung

Mutations in panel ot 204 genes

Mutations in panel of 801 genes

Mutation is panel of 456 genes

Mutations in panel of 423 genes

Mutations in panel of 212 genes

Mutations in panel of 209 genes

Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с рецесивни заболявания

Mutations in panel of 1012 genes

Анализ на BRCA1, BRCA2, CHEK2, PALB2, RAD51C и TP53 гените  

Анализ на соматични мутации в ESR1 гена 

Анализ на соматични PIK3CA hot-spot мутации

Таргетно секвениране на панел от HRR гени за установяване на варианти свързани с дефицит на хомоложна рекомбинация (HRD)

Установяване на дефицит на хомоложна рекомбинация (HRD)

Анализ на  соматични ДНК варианти в панел от гени* (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)

Анализ на соматични ДНК варианти  (SNVs, InDels,SVs, CNVs) в панел от 95 гени при солидни тумори

mutaions in exon 4 of IDH1 gene and exon 4 of IDH2 gene

Large deletions/ insertions and rearrangements in chromosome 1p/19q

large deletins/duplications rearrangements PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes

Mutations in ATRX gene

Large deletins/insertions in ATRX gene

Mutation in promoter region of TERT gene

Mutations in exon 2 of H3F3A gene

Mutations in exon 1 of HIST1H3B and HIST1H3C genes.

Mutations in DICER1 gene

Mutations in exons 8, 9, 11, 13, 14, 17 and 18 of сKIT gene

Mutations in exons 12, 14 и 18 of PDGFRA gene

Mutations in exons 9 and 11 of сKIT gene, and mutations in exon 18 of PDGFRA gene

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

Mutations in exon 15 of BRAF gene

Mutations in TP53 gene

Анализ на TP53 гена, WES

Duplications/ deletions of 17p13 (TP53 gene), 13q14 (RB1/DLEU/MIR15A-region), 11q22 (ATM, trisomy 12)

3 polymorphisms in CYP2C9 and VKORC1 genes (CYP2C92, CYP2C93, VKORC1-1639G>A)

2 polymorphisms in CYP2C9 gene (CYP2C19*2, CYP2C19*17)

5 polymorphic variants in MTHFR and ABCB1 genes

7 polymorphisms in NAT2 gene

Variants DPYD∗2A, DPYD∗13, c.2846A>T, and c.1236G>A.

Анализ на 1 полиморфен вариант-повтор в промоторния участък на UGT1A1 гена

Panel of two (TH and PHOX2B) expression markers in patients with Neuroblastoma

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)

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)

CYP2C9*2 ( rs1799853, c.430C>T) CYP2C9*3(rs1057910,c.1075A>C)

CYP2C19*2 ( rs4244285, c.681 G>A) CYP2C19*3 ( rs4986893, c.636G > A)

CYP2D6*3 ( rs35742686, 2550 Del A) CYP2D6*4 ( rs3892097, 1846G > A)

Mutations in SMARCB1 gene

Deletions/duplications in region 22q11.21-q12.2, including TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1(INI1), SNRPD3, SEZ6L, NIPSNAP1 genes

Variants in BMP15 gene

Variants rs6165 and rs6166 in exon 10 of FSHR gene

Mutations in 233 genes associated with oncology diseases

Mutations in 5227 genes associated with hereditary diseases

Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30

Analysis of SINGLE gene mutation in 1 relative

Confirmation Analysis of SINGLE Gene mutation after Next Generation Sequencing (NGS)

Конкретни делеции/дупликации, пренареждания в различни части на генома, открити при секвениране от ново поколение (NGS) с микрочип

Делеции/дупликации пренареждания в известни геномни райони

Делеции/дупликации пренареждания в известни геномни райони

Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2

Microarray analysis with SurePrint G3 Unrestricted CGH 4x180K, ISCA v2

Microarray analysis with Unrestricted HD-CGH array ISCA v2, 4x44K

Large deletions/ insertions and rearrangements and methylation profile in genome region 15q11- PWS/AS

Large deletions/ insertions and rearrangements and methylation profile in genome region 11p15BWS/RSS

Mutations in UBE3A gene (exons 8-17)

Хромозоми 14 и 7, с метилационен MLPA 

DNA extraction of 1-3 ml blood

DNA extraction of 4-6 ml blood

DNA extraction of 7-10 ml blood

DNA extracion and storage from fresh/frozen tissue

DNA extracion and storage from FFPE

DNA extracion and storage from 1 ml saliva

1 fragment up to 700 bases with customer'sprimers

24 fragments up to 700 bases with customer's primers

96 fragments up to 700 bases with customer's primers

1 sample for 1 microsatellite marker and customer's primers

1 sample for 24 microsatellites marker and customer's primers

1 sample for 96 microsatellite markers and customer's primers

1 microarray

1 microarray

Gene panel of 5 227 genes, associated with inhereted diseases

Whole exome - 19 396 RefSeq genes. Read depth - average coverage >=50X, guaranteed >= 85%bases with quality score >=Q30

Clinical interpretation and result, prepared and signed by a medical genetics specialist

Clinical interpretation and result, prepared and signed by a medical genetics specialist

1 patient

1 patient

1 пациент

Mutations in CYP21A2 gene

Mutations in CYP21A2 gene

Analysis of the NF1 gene for large deletions / insertions and rearrangements

Analysis of the NF2 gene for large deletions / insertions and rearrangements

Analysis of the IGF1R gene for large deletions / amplifications

MYCN Amplification Study, Chromosome Aberrations 1, 2, 3, 4, 7, 9, 11, 12, 14, 17

Анализ и интерпретация на соматични варианти в панел от гени, свързани с детски солидни тумори

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

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

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

Анализ и интерпретация на данни от Цялостно геномно секвениране (WGS), включващ екзомен панел от всички известни гени, асоциирани с наследствени заболявания

Анализ и интерпретация на данни от Цялостно геномно секвениране (WGS), включващ SNVs, InDels,SVs, CNVs, асоциирани с наследствени заболявания