Next Generation Sequencing

English Text

Direct Sequencing (Sanger Sequencing) Method

Next Generation Sequencing

Clinical Exome Sequencing

Targeted Exome Sequencing

Chromosomal Microarray Analysis

Multiplex Ligation Dependent Probe Amplification

High Resolution Melting - HRM Analysis

Fragment analysis

Other Methods

Next Generation Sequencing

Services • Methods

Next-Generation Sequencing - (NGS)

Massive simultaneous parallel sequencing of plenty of genes, all genes in the individual (exome) or whole genome (whole DNA, which includes all genes plus the noncoding DNA sequences).

Depending on the specifics and scope of the analysis Laboratory of Genomic Diagnostics offers two platforms of NGS sequencing with two different mechanisms of sequencing – Miseq (Illumina) and Ion Torrent PGM (Life Technologies).

Test 2 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 3 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 6 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 7 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 9 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 14 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 15 - Hereditary Gastrointestinal Tumors
Test 27 - Familial Prostate Cancer
Test 28 - Hematologic Oncologic Diseases
Test 29 - Hereditary Paraganglioma - Pheochromocytoma / PGL/PCC syndrome/
Test 30 - Hereditary syndromes associated with tumors of CNS, PNS
Test 31 - RASopathies, Genetic syndroms, resulting from mutations in genes coding components or regulators of Ras/MAPK pathway
Test 32 - Medulloblastoma
Test 33 - Sarcoma
Test 34 - Hereditary Neuroblastoma
Test 47 - Epileptic encephalopathies
Test 48 - Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
Test 49 - Epilepsy and epileptic syndromes - extended panel
Test 50 - Мigraine
Test 51 - Syndromic intellectual disability
Test 52 - Autism
Test 54 - Hereditary spastic paraplegia
Test 56 - Hereditary neuropathies
Test 57 - Hereditary cerebellar ataxia
Test 58 - Cerebellar hypoplasia
Test 59 - Arthrogryposis
Test 60 - Neuromuscular diseases
Test 62 - Alzheimer's disease
Test 63 - Parkinson's disease
Test 64 - Dementia
Test 65 - Frontotemporal degeneration
Test 66 - Amyotrophic lateral sclerosis
Test 68 - Motor disorders
Test 69 - Childhood onset leukodystrophy
Test 70 - Leukodystrophy with brain calcifications
Test 71 - Late-onset leukodystrophy
Test 72 - Congenital hypotension
Test 75 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 77 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 81 - Glaucoma
Test 85 - Cone-rod retinal degeneration
Test 88 - Leber congenital amaurosis
Test 98 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 99 - Retinal degeneration Usher syndrome type 2
Test 102 - Bardet-Biedl syndrome
Test 103 - Congenital stationary night blindness
Test 107 - Cataract
Test 111 - Syndromic and non-syndromic hearing loss
Test 114 - Cortico-resistant nephrotic syndrome
Test 116 - Congenital anomalies of the urinary system
Test 119 - Ciliopathies
Test 120 - Endocrine diseases
Test 121 - Congenital hypopituitarism
Test 126 - Isolated Growth Hormone Deficiency
Test 130 - Maturity-onset diabetes of youth (MODY)
Test 131 - Cardiovascular diseases
Test 133 - Мitochondrial diseases
Test 134 - Connective tissue diseases
Test 135 - Marfan Syndrome and Marfan-Like Disorders
Test 136 - Skeletal dysplasias
Test 137 - Liver diseases
Test 138 - Immune diseases
Test 139 - Hematological diseases
Test 140 - Syndromic and nonsyndromic diseases with dermatological symptoms
Test 141 - Reproductive panel - women
Test 142 - Reproductive panel - men
Test 143 - Metabolic diseases
Test 178 - Analysis of extended panel of genes for Family Oncology Diseases and Interpretation
Test 179 - Analysis of gene pannel associated with targeted therapy in solid tumors and interpretation
Test 180 - Whole exome sequencing (WES) and interpretation of clinical exome
Test 181 - Whole exome sequencing (WES), analysis and interpretation not included
Test 210 - Analysis of clinical exome, confirmation and interpretation, with reagents provided by the Ministry of Health