By Type of Testing

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 194.

Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)

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 195.

Slow metabolizers by CYP2C9

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

Test 196.

Slow metabolizers by CYP2C19

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

Test 197.

Slow metabolizers by CYP2D6

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

Test 198.

Diagnostic markers in brain, rhabdoid, solid and other tumors

Mutations in SMARCB1 gene

Test 203.

Mutation carrier in family with known genetic cause of hereditary disease

Analysis of SINGLE gene mutation in 1 relative

Test 204.

Confirmation analysis of mutation found with Next Generation Sequencing (NGS)

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

Test 213.

Angelman Syndrome

Mutations in UBE3A gene (exons 8-17)

Test 221.

Sequencing at the customer's request

1 fragment up to 700 bases with customer'sprimers

Test 222.

Sequencing at the customer's request

24 fragments up to 700 bases with customer's primers

Test 223.

Sequencing at the customer's request

96 fragments up to 700 bases with customer's primers

Test 236.

Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Mutations in CYP21A2 gene

Clinical Exome Sequencing

Test 1.

Hereditary Breast and Ovarian Cancer (HBOC)

Germline mutations in the BRCA1 and BRCA2 genes

Test 4.

Hereditary Breast and Ovarian Cancer (HBOC)

Cancer panel of 31 genes associated with HBOC

Test 6.

Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Mutations in 38 colorectal cancer associated genes

Test 11.

Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

A panel of 5 genes associated with HNPCC

Test 12.

Hereditary Gastrointestinal Tumors

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

Test 24.

Familial Prostate Cancer

A panel of 35 genes associated with prostate cancer

Test 25.

Фамилен рак на панкреаса

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

Test 26.

Фамилен рак на кожата

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

Test 27.

Наследствени онкологични заболявания, разширен панел

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

Test 28.

Hereditary Paraganglioma - Pheochromocytoma / PGL/PCC syndrome/

Mutations in 20 genes associated with Hereditary Paraganglioma/ Pheochromocytoma

Test 29.

Hereditary syndromes associated with tumors of CNS, PNS

Mutations in 36 genes associated with CNS/ PNS tumors

Test 30.

RASopathies, Genetic syndroms, resulting from mutations in genes coding components or regulators of Ras/MAPK pathway

Mutations in 36 panel genes

Test 31.

Hereditary Neuroblastoma

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

Test 38.

Туберозна склероза

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

Test 48.

Epileptic encephalopathies

Mutations in 516 epileptic encephalopathies associated genes

Test 49.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

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

Test 50.

Epilepsy and epileptic syndromes - extended panel

Mutations in 1089 epilepsy and epileptic syndromes associated genes

Test 51.

Мigraine

Mutations in 24 nuclear encoded genes

Test 52.

Neuromuscular diseases

Mutations in 496 neuromuscular disease associated genes

Test 53.

Congenital hypotension

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

Test 55.

Hereditary spastic paraplegia

Mutations in 111 hereditary spastic paraplegia associated genes

Test 57.

Hereditary neuropathies

Mutations in 281 genes associated with hereditary motor and sensory neuropathies

Test 58.

Hereditary cerebellar ataxia

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

Test 59.

Cerebellar hypoplasia

Mutations in 68 cerebellar hypoplasia associated genes

Test 60.

Syndromic intellectual disability

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

Test 61.

Autism

Mutations in 1131 autistic associated genes

Test 65.

Alzheimer's disease

A panel of 40 genes associated with AD

Test 66.

Parkinson's disease

A panel of 86 genes associated with PD

Test 67.

Dementia

A panel of 47 dementia associated genes

Test 68.

Frontotemporal degeneration

A panel of 23 genes associated with FTD

Test 69.

Amyotrophic lateral sclerosis

A panel of 82 genes associated with ALS

Test 71.

Motor disorders

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

Test 72.

Childhood onset leukodystrophy

Mutations in 2938 genes associated with childhood onset leukodystrophy

Test 73.

Leukodystrophy with brain calcifications

Mutations in 232 genes associated with leukodystrophy with brain calcifications

Test 74.

Late-onset leukodystrophy

Mutations in 84 genes associated with late-onset leukodystrophy

Test 77.

Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Mutations in a panel of 14 genes associated with Stargardt disease

Test 79.

Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Mutations in a panel of 30 genes associated with macular degeneration

Test 83.

Glaucoma

Mutations in 25 genes associated with glaucoma

Test 87.

Cone-rod retinal degeneration

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

Test 90.

Leber congenital amaurosis

Mutations in 26, associated with Leber congenital amaurosis

Test 100.

Retinal pigment degeneration (Retinitis pigmentosa)

Mutations in 341 genes, associated with Retinitis pigmentosa

Test 101.

Retinal degeneration Usher syndrome type 2

Mutations in 341 genes assotiated with retinal degeneration

Test 104.

Bardet-Biedl syndrome

Mutations in 27 genes associated with Bardet-Biedl syndrome

Test 105.

Congenital stationary night blindness

Mutations in 14 genes associated with Congenital stationary night blindness

Test 109.

Cataract

Mutations in 90 genes associated with cataract

Test 113.

Syndromic and non-syndromic hearing loss

Mutations in 594 genes associated with hearing loss

Test 118.

Congenital anomalies of the urinary system

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

Test 121.

Ciliopathies

Mutation panel 250 genes

Test 122.

Наследствени бъбречни заболявания

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

Test 123.

Endocrine diseases

Mutations in 810 genes associated with endocrine diseases

Test 124.

Congenital hypopituitarism

Mutations in 10 genes associated with pituitary gland diseases

Test 125.

Congenital hypothyroidism

Mutations in 24 genes associated with thyroid gland diseases

Test 129.

Isolated Growth Hormone Deficiency

Mutations in 10 genes associated with IGHD

Test 132.

Maturity-onset diabetes of youth (MODY)

Mutatins in 15 genes associated with MODY

Test 133.

Кардиомиопатии и аритмии

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

Test 134.

Фамилна хиперхолестеролемия

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

Test 135.

Фамилна хипертриглицеридемия

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

Test 136.

Фамилна липодистрофия

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

Test 137.

Фамилни заболявания с повишен риск за цереброваскуларен инцидент (инсулт)

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

Test 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

Test 139.

Фамилна хеморагична телангиектазия и васкуларни малформации

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

Test 140.

Фамилни сърдечни заболявания

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

Test 142.

Мitochondrial diseases

Mutations in 266 nuclear genes associated with mitochondrial diseases

Test 144.

Connective tissue diseases

Mutations in panel of 224 genes

Test 145.

Marfan Syndrome and Marfan-Like Disorders

Mutations in panel of 113 genes

Test 146.

Синдром на Marfan и Marfan-подобни заболявания

Големи делеции/инсерции пренареждания в FBN1 генa

Test 147.

Skeletal dysplasias

Mutations in panel of 597 genes

Test 148.

Мулти малформативни заболявания

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

Test 149.

Arthrogryposis

Mutations in 288 arthrogryposis associated genes

Test 151.

Фамилен панкреатит

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

Test 152.

Болест на Hirschsprung

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

Test 153.

Liver diseases

Mutations in panel ot 204 genes

Test 154.

Immune diseases

Mutations in panel of 801 genes

Test 155.

Hematological diseases

Mutation is panel of 456 genes

Test 156.

Syndromic and nonsyndromic diseases with dermatological symptoms

Mutations in panel of 423 genes

Test 157.

Metabolic diseases

Mutations in panel of 1012 genes

Test 158.

Reproductive panel - women

Mutations in panel of 212 genes

Test 159.

Reproductive panel - men

Mutations in panel of 209 genes

Test 160.

Скрининг за хетерозиготно носителство на рецесивни заболявания при двойки

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

Test 163.

BRCA-свързан разширен панел за оценка на фамилен риск и избор на терапия

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

Test 165.

Избор на терапия при карцином на гърда

Анализ на соматични PIK3CA hot-spot мутации

Test 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)

Test 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)

Test 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)

Test 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

Test 185.

Предиктивен маркер за таргетна терапия при хронична лимфоцитна левкемия/ХЛЛ/

Анализ на TP53 гена, WES

Test 200.

Analysis of extended panel of genes for Family Oncology Diseases and Interpretation

Mutations in 233 genes associated with oncology diseases

Test 201.

Whole exome sequencing (WES) and interpretation of clinical exome

Mutations in 5227 genes associated with hereditary diseases

Test 202.

Whole exome sequencing (WES) of a patient and both parents, including analysis and interpretation.

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

Test 234.

Analysis of clinical exome, confirmation and interpretation, with reagents provided by the Ministry of Health

1 patient

Test 235.

Цялостно геномно секвениране с анализ и интерпретация

1 пациент

Test 241.

Детски солидни тумори

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

Test 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

Test 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

Test 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

Test 245.

Цялостно геномно секвениране и анализ и интерпретация на панел от над 500 гени

Fragment Analysis

Test 5.

Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

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

Test 70.

Amyotrophic lateral sclerosis and frontotemporal degeneration

Copy number varioations in C9orf72

Test 224.

Fragment analysis at the customer's request

1 sample for 1 microsatellite marker and customer's primers

Test 225.

Fragment analysis at the customer's request

1 sample for 24 microsatellites marker and customer's primers

Test 226.

Fragment analysis at the customer's request

1 sample for 96 microsatellite markers and customer's primers

Chromosomal Microarray Analysis (аCGH)

Test 205.

Потвърдителен анализ /сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

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

Test 208.

Microdeletion and Microduplication Syndromes

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

Test 209.

Neuropsychological development delay / Autistic Spectrum Diseases

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

Test 210.

Congenital abnormalities and malformative syndromes / spontaneous abortions

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

Test 233.

Microarray analysis with reagents provided by Ministry of Health

1 patient

MLPA

Test 2.

Hereditary Breast and Ovarian Cancer (HBOC)

Large deletion/insertion rearrangements in the BRCA1 gene

Test 3.

Hereditary Breast and Ovarian Cancer (HBOC)

Large deletion/insertion rearrangements in the BRCA2 gene

Test 10.

Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)

Large deletions/ insertions and rearrangements in MLH1 and MSH2 genes

Test 16.

Familial Adenomatous Polyposis (FAP)

Large deletions/ insertions and rearrangements in APC gene

Test 23.

Li-Fraumeni syndrome

Large deletions/ insertions and rearrangements in TP53 gene

Test 33.

Neurofibromatosis type 1

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

Test 34.

Neurofibromatosis type 2

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

Test 40.

Epilepsy with febrile seizures, GEFS+ and Dravet syndrome

Deletions/duplications and rearrangements of SCN1A gene

Test 41.

Epilepsy with febrile seizures, GEFS+ and Dravet syndrome

Mutations, deletions/duplications and rearrangements in SCN1A gene

Test 43.

Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy

Deletions/duplications and rearrangements of KCNQ2 gene

Test 44.

Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy

Mutations, deletions/duplications and rearrangements of KCNQ2 gene

Test 46.

Childhood absence epilepsy and GLUT1 deficiency

Deletions/duplications and rearrangements in SLC2A1(GLUT1) gene

Test 47.

Childhood absence epilepsy and GLUT1 deficiency

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

Test 62.

Изоставане в НПР, интелектуален дефицит и/или вродени аномалии

Субтеломерни микроделеции/микродупликации, свързани с изоставане в умственото развитие

Test 63.

Известни микроделеционни/ микродупликационни синдроми

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

Test 76.

Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)

Large deletions/insertions in the ABCA4 gene

Test 86.

Cone-rod retinal degeneration

Large deletions/insertions in the ABCA4 gene

Test 97.

Retinal pigment degeneration (Retinitis pigmentosa)

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

Test 98.

Retinal pigment degeneration (Retinitis pigmentosa)

Large deletions/insertions in the USH2A

Test 99.

Retinal pigment degeneration (Retinitis pigmentosa)

Large deletions/insertions in EYS gene

Test 103.

Retinal degeneration Usher syndrome type 2

Large insertions/deletions in USH2A gene

Test 114.

Sensorineural hearing loss and Wolfram type 1 syndrome

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 119.

Congenital anomalies of the urinary system

Screening for large deletions/duplications affecting the HNF1B gene

Test 127.

Congenital hypothyroidism

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

Test 130.

Maturity-onset diabetes of youth (MODY)

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

Test 143.

Митохондриални заболявания

Големи делеции/инсерции пренареждания в митохондриалната ДНК

Test 171.

Prognostic markers in tumors of the central nervous system

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

Test 172.

Prognostic markers in tumors of the central nervous system

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

Test 174.

Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others

Large deletins/insertions in ATRX gene

Test 186.

Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)

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

Test 199.

Diagnostic markers in brain, rhabdoid, solid and other tumors

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

Test 206.

Потвърдителен анализ /сегрегация на аберации, открити чрез микрочипов анализ и NGS

Делеции/дупликации пренареждания в известни геномни райони

Test 236.

Congenital adrenal hyperplasia (21 hydroxylase deficiency)

Mutations in CYP21A2 gene

Test 237.

Neurofibromatosis type 1

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

Test 238.

Neurofibromatosis type 2

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

Test 239.

Growth deficiency

Analysis of the IGF1R gene for large deletions / amplifications

Test 240.

Chromosomal copy number variations in Childhood solid tumors (Neublastom / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor)

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

RT- PCR

Test 164.

Избор на терапия при карцином на гърда

Анализ на соматични мутации в ESR1 гена

Test 192.

Minimal residual disease in patients with neuroblastoma

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

Test 207.

Потвърдителен анализ/сегрегация на CNV вариант открит след секвениране от следващо поколение (NGS)

Делеции/дупликации пренареждания в известни геномни райони

Other

Test 116.

Cortico-resistant nephrotic syndrome

mutations in 26 genes associated with nephrotic syndrome

Test 231.

Genetic counseling, Professor

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

Test 232.

Genetic counseling, Doctor

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

DNA Extraction by Magnetic Separation

Test 215.

DNA banking

DNA extraction of 1-3 ml blood

Test 216.

DNA banking

DNA extraction of 4-6 ml blood

Test 217.

DNA banking

DNA extraction of 7-10 ml blood

DNA Extraction by Column Method

Test 218.

DNA banking

DNA extracion and storage from fresh/frozen tissue

Test 219.

DNA banking

DNA extracion and storage from FFPE

Test 220.

DNA banking

DNA extracion and storage from 1 ml saliva

Agilent скенер G2565CA, Feature Extraction

Test 227.

Microarray scanning at the customer's request

1 microarray

Test 228.

Microarray scanning and bioinformatics analysis at the customer's request

1 microarray

VarSeq Software

Test 229.

Comprehensive bioinformatics analysis and interpretation of NGS data

Gene panel of 5 227 genes, associated with inhereted diseases

Test 230.

Comprehensive bioinformatics analysis and interpretation of NGS data

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

Test 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

Test 247.

Биоинформатичен анализ и интерпретация на данни от Цялостно геномно секвениране (WGS)

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

HRM

Test 187.

Optimizing therapy with the indirect anticoagulant acenocoumarol (Syntrom)

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

Test 188.

Optimizing therapy with the antiplatelet agent clopidogrel (Plavix)

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

Test 189.

Optimization of methotrexate therapy