English Text
Multiplex ligation-dependent probe amplification (MLPA)
Semi-quantitative method for determining the number of copies in up to 60 DNA sequences in multiplex-based PCR. The technique is used to detect deletions and/or duplications in a single disease-associated gene or several chromosomal regions related to known microdeletion/ duplication syndromes. The sensitivity of the method is 90%. MLPA analysis is used to detect copy number variations distinctive for some types of cancers (tests 4, 5, 6, 13, 19, 110, 111, 112, 119, 120), some neurological (tests 32, 35, 38), and kidney diseases (91, 101) as well as confirmation of detected aberration by microarray analysis (test 133).
Modification of the method is methylation-specific MLPA, in which, in addition to deletions/ duplication analysis in a certain chromosome region, the degree of methylation of the genes located in it is also determined. Abnormal methylation status is observed in some syndromic conditions such as Angelman/Prader Willi and Silver Russel/Beckwith Wiederman syndromes and others (tests 133, 134, 135).
LGD offers the following diagnostic tests using direct sequencing:
- Test 2 - Hereditary Breast and Ovarian Cancer (HBOC)
- Test 3 - Hereditary Breast and Ovarian Cancer (HBOC)
- Test 5 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
- Test 10 - Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
- Test 16 - Familial Adenomatous Polyposis (FAP)
- Test 23 - Li-Fraumeni syndrome
- Test 33 - Neurofibromatosis type 1
- Test 34 - Neurofibromatosis type 2
- Test 40 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
- Test 41 - Epilepsy with febrile seizures, GEFS+ and Dravet syndrome
- Test 43 - 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 46 - Childhood absence epilepsy and GLUT1 deficiency
- Test 47 - Childhood absence epilepsy and GLUT1 deficiency
- Test 62 - Изоставане в НПР, интелектуален дефицит и/или вродени аномалии
- Test 63 - Известни микроделеционни/ микродупликационни синдроми
- Test 76 - Macular degeneration (including Stargardt disease, associated with age-related macular degeneration and others)
- Test 86 - Cone-rod retinal degeneration
- Test 97 - Retinal pigment degeneration (Retinitis pigmentosa)
- Test 98 - Retinal pigment degeneration (Retinitis pigmentosa)
- Test 99 - Retinal pigment degeneration (Retinitis pigmentosa)
- Test 103 - Retinal degeneration Usher syndrome type 2
- Test 114 - Sensorineural hearing loss and Wolfram type 1 syndrome
- Test 119 - Congenital anomalies of the urinary system
- Test 127 - Congenital hypothyroidism
- Test 130 - Maturity-onset diabetes of youth (MODY)
- Test 143 - Митохондриални заболявания
- Test 171 - Prognostic markers in tumors of the central nervous system
- Test 172 - Prognostic markers in tumors of the central nervous system
- Test 174 - Diagnostic markers for tumors in the central nervous system, endometrium, stomach, and others
- Test 186 - Predictive marker for targeted therapy in chronic lymphocytic leukemia (CLL)
- Test 199 - Diagnostic markers in brain, rhabdoid, solid and other tumors
- Test 206 - Потвърдителен анализ /сегрегация на аберации, открити чрез микрочипов анализ и NGS
- Test 212 - Russell-Silver/Beckwith-Wiedemann syndrome
- Test 236 - Congenital adrenal hyperplasia (21 hydroxylase deficiency)
- Test 237 - Neurofibromatosis type 1
- Test 238 - Neurofibromatosis type 2
- Test 239 - Growth deficiency
- Test 240 - Chromosomal copy number variations in Childhood solid tumors (Neublastom / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor)