Targeted Exome 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

RT-PCR

MS-MLPA

Targeted Exome Sequencing

Services • Methods

The laboratory offers diagnostic tests for a wide range of inherited diseases (oncological, neurological, renal, ocular, auricular, etc.), using next-generation massive parallel sequencing of certain target genes included in specific gene panels.

LGD offers the following targeted sequencing tests:

Test 1 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 4 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 6 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 11 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 12 - Hereditary Gastrointestinal Tumors
Test 24 - Familial Prostate Cancer
Test 28 - Hereditary Paraganglioma - Pheochromocytoma / PGL/PCC syndrome/
Test 29 - Hereditary syndromes associated with tumors of CNS, PNS
Test 30 - RASopathies, Genetic syndroms, resulting from mutations in genes coding components or regulators of Ras/MAPK pathway
Test 31 - Hereditary Neuroblastoma
Test 49 - Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
Test 50 - Epilepsy and epileptic syndromes - extended panel
Test 51 - Мigraine
Test 53 - Congenital hypotension
Test 55 - Hereditary spastic paraplegia
Test 57 - Hereditary neuropathies
Test 58 - Hereditary cerebellar ataxia
Test 59 - Cerebellar hypoplasia
Test 60 - Syndromic intellectual disability
Test 61 - Autism
Test 65 - Alzheimer's disease
Test 66 - Parkinson's disease
Test 67 - Dementia
Test 68 - Frontotemporal degeneration
Test 69 - Amyotrophic lateral sclerosis
Test 71 - Motor disorders
Test 72 - Childhood onset leukodystrophy
Test 73 - Leukodystrophy with brain calcifications
Test 74 - Late-onset leukodystrophy
Test 77 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 79 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 83 - Glaucoma
Test 87 - Cone-rod retinal degeneration
Test 100 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 101 - Retinal degeneration Usher syndrome type 2
Test 104 - Bardet-Biedl syndrome
Test 105 - Congenital stationary night blindness
Test 109 - Cataract
Test 113 - Syndromic and non-syndromic hearing loss
Test 116 - Cortico-resistant nephrotic syndrome
Test 118 - Congenital anomalies of the urinary system
Test 121 - Ciliopathies
Test 123 - Endocrine diseases
Test 124 - Congenital hypopituitarism
Test 125 - Congenital hypothyroidism
Test 129 - Isolated Growth Hormone Deficiency
Test 132 - Maturity-onset diabetes of youth (MODY)
Test 142 - Мitochondrial diseases
Test 144 - Connective tissue diseases
Test 145 - Marfan Syndrome and Marfan-Like Disorders
Test 147 - Skeletal dysplasias
Test 149 - Arthrogryposis
Test 153 - Liver diseases
Test 154 - Immune diseases
Test 155 - Hematological diseases
Test 156 - Syndromic and nonsyndromic diseases with dermatological symptoms
Test 157 - Metabolic diseases
Test 158 - Reproductive panel - women
Test 159 - Reproductive panel - men
Test 200 - Analysis of extended panel of genes for Family Oncology Diseases and Interpretation
Test 234 - Analysis of clinical exome, confirmation and interpretation, with reagents provided by the Ministry of Health