Direct Sequencing (Sanger Sequencing) Method

English Text

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

Direct Sequencing (Sanger Sequencing) Method

Services • Methods

Direct Sequencing (Sanger Sequencing) Method

A method of direct reading of the DNA sequence of all coding exons and exonic/intronic boundaries of a particular gene, associated with the disease. In this method, the nucleotide sequence of a DNA fragment is determined using automatic sequencers. The separation of the DNA fragments is performed using capillary electrophoresis. Each of the four nucleotides is marked with four different fluorescent dyes, which, after laser irradiation, emit light of different wavelengths. This light subsequently is detected by a camera and transformed by specialized software into an electropherogram. The sensitivity of Sanger Sequencing is 99,5%.

Sanger sequencing is used for carrier testing of an already identified pathogenic mutation in the family and/or for confirmation of a variant, detected with Next Generation Sequencing technology.

LGD offers the following molecular diagnostic tests using the direct sequencing method:

Test 1 - Hereditary Breast and Ovarian Cancer (HBOC)
Test 10 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 11 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 12 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 16 - Familial Adenomatous Polyposis (FAP)
Test 17 - Familial Adenomatous Polyposis (FAP)
Test 18 - Familial Adenomatous Polyposis (FAP)
Test 20 - Herschprung Disease
Test 21 - Multiple Endocrine Neoplasia (MEN)
Test 22 - Multiple Endocrine Neoplasia (MEN)
Test 23 - Multiple Endocrine Neoplasia (MEN)
Test 24 - Multiple Endocrine Neoplasia (MEN)
Test 25 - Li-Fraumeni Syndrome
Test 35 - Neurofibromatosis type 1
Test 38 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
Test 40 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
Test 41 - Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy
Test 43 - Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy
Test 44 - Childhood absence epilepsy and GLUT1 deficiency
Test 46 - Childhood absence epilepsy and GLUT1 deficiency
Test 53 - Hereditary spastic paraplegia
Test 55 - Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia
Test 61 - Alzheimer's disease
Test 73 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 76 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
Test 78 - Glaucoma
Test 79 - Glaucoma
Test 80 - Glaucoma
Test 82 - Cone-rod retinal degeneration
Test 83 - Cone-rod retinal degeneration
Test 86 - Leber congenital amaurosis
Test 87 - Leber congenital amaurosis
Test 89 - Leber hereditary optic neuropathy
Test 90 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 91 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 92 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 93 - Retinal pigment degeneration
Test 94 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 100 - Retinal degeneration Usher syndrome type 2
Test 104 - Retinoschisis
Test 105 - Retinoblastoma
Test 106 - Retinoblastoma
Test 108 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 109 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 110 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 113 - Cortico-resistant nephrotic syndrome
Test 115 - Congenital anomalies of the urinary system
Test 118 - UMOD-associated nephropathy
Test 123 - Congenital hypothyroidism
Test 125 - Isolated Growth Hormone Deficiency
Test 127 - Congenital adrenal hyperplasia (21 hydroxylase deficiency)
Test 129 - Maturity-onset diabetes of youth (MODY)
Test 132 - Мitochondrial diseases
Test 144 - Gorlin-Goltz syndrome
Test 145 - Gorlin-Goltz syndrome
Test 146 - Gorlin-Goltz syndrome
Test 147 - Prognostic markers in tumors of the central nervous system
Test 150 - Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others
Test 152 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 153 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 154 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 155 - Diagnostic marker for the presence of DICER1 syndrome
Test 156 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 157 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 158 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 159 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 160 - Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)
Test 161 - Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)
Test 166 - Optimizing Isoniazid for the treatment of pulmonary tuberculosis
Test 167 - Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine
Test 169 - Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
Test 170 - Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
Test 171 - Slow metabolizers by CYP2C9
Test 172 - Slow metabolizers by CYP2C19
Test 173 - Slow metabolizers by CYP2D6
Test 174 - Diagnostic markers in brain, rhabdoid, solid and other tumors
Test 176 - Carrier Analysis of Variants Associated with Reproductive Disadvantages
Test 177 - Carrier Analysis of Variants Associated with Reproductive Disadvantages
Test 182 - Mutation carrier in family with known genetic cause of hereditary disease
Test 183 - Confirmation analysis of mutation found with Next Generation Sequencing (NGS)
Test 190 - Angelman Syndrome
Test 197 - Sequencing at the customer's request
Test 198 - Sequencing at the customer's request
Test 199 - Sequencing at the customer's request
Test 211 - Analysis of the CYP21A2 gene