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

RT-PCR

MS-MLPA

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 7 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 8 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 9 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
Test 13 - Familial Adenomatous Polyposis (FAP)
Test 14 - Familial Adenomatous Polyposis (FAP)
Test 15 - Familial Adenomatous Polyposis (FAP)
Test 17 - Herschprung Disease
Test 18 - Multiple Endocrine Neoplasia (MEN)
Test 19 - Multiple Endocrine Neoplasia (MEN)
Test 20 - Multiple Endocrine Neoplasia (MEN)
Test 21 - Multiple Endocrine Neoplasia (MEN)
Test 22 - Li-Fraumeni Syndrome
Test 32 - Neurofibromatosis type 1
Test 35 - Gorlin-Goltz syndrome
Test 36 - Gorlin-Goltz syndrome
Test 37 - Gorlin-Goltz syndrome
Test 39 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
Test 41 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
Test 42 - Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy
Test 44 - Benign familial neonatal convulsions, neonatal-infantile convulsions (BFNC, BFNIC) and early onset epileptic encephalopathy
Test 45 - Childhood absence epilepsy and GLUT1 deficiency
Test 47 - Childhood absence epilepsy and GLUT1 deficiency
Test 54 - Hereditary spastic paraplegia
Test 57 - Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia
Test 65 - Alzheimer's disease
Test 76 - 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 81 - Glaucoma
Test 82 - Glaucoma
Test 83 - Glaucoma
Test 85 - Cone-rod retinal degeneration
Test 86 - Cone-rod retinal degeneration
Test 89 - Leber congenital amaurosis
Test 90 - Leber congenital amaurosis
Test 92 - Leber hereditary optic neuropathy
Test 93 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 94 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 95 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 96 - Retinal pigment degeneration
Test 97 - Retinal pigment degeneration (Retinitis pigmentosa)
Test 103 - Retinal degeneration Usher syndrome type 2
Test 107 - Retinoschisis
Test 108 - Retinoblastoma
Test 109 - Retinoblastoma
Test 111 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 112 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 113 - Hereditary and sporadic nonsyndromic neurosensory hearing loss
Test 116 - Cortico-resistant nephrotic syndrome
Test 118 - Congenital anomalies of the urinary system
Test 121 - UMOD-associated nephropathy
Test 127 - Congenital hypothyroidism
Test 129 - Isolated Growth Hormone Deficiency
Test 132 - Maturity-onset diabetes of youth (MODY)
Test 134 - Congenital adrenal hyperplasia (21 hydroxylase deficiency)
Test 143 - Мitochondrial diseases
Test 163 - Carrier Analysis of Variants Associated with Reproductive Disadvantages
Test 164 - Carrier Analysis of Variants Associated with Reproductive Disadvantages
Test 172 - Prognostic markers in tumors of the central nervous system
Test 175 - Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others
Test 177 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 178 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 179 - Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
Test 180 - Diagnostic marker for the presence of DICER1 syndrome
Test 181 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 182 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 183 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 184 - Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
Test 185 - Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)
Test 186 - Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)
Test 192 - Optimizing Isoniazid for the treatment of pulmonary tuberculosis
Test 193 - Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine
Test 194 - Изследване на UGT1A1 вариант за оптимизиране на химиотерапията
Test 196 - Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
Test 197 - Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
Test 198 - Slow metabolizers by CYP2C9
Test 199 - Slow metabolizers by CYP2C19
Test 200 - Slow metabolizers by CYP2D6
Test 201 - Diagnostic markers in brain, rhabdoid, solid and other tumors
Test 206 - Mutation carrier in family with known genetic cause of hereditary disease
Test 207 - Confirmation analysis of mutation found with Next Generation Sequencing (NGS)
Test 216 - Angelman Syndrome
Test 224 - Sequencing at the customer's request
Test 225 - Sequencing at the customer's request
Test 226 - Sequencing at the customer's request
Test 239 - Congenital adrenal hyperplasia (21 hydroxylase deficiency)