Genetică
Listă analize medicale - categoria Genetică
ABCB4, ABCB11 - secventiere NGS* | 9000 | 9000 | 4671 |
Acidemia glutarica tip 1 - gena GCDH secventiere* | 2500 | 2500 | 4733 |
Acidemia/acidurie organica si deficienta de cobalamina - panel complex 54 gene - PLUS (ME0901)* | 4600 | 4600 | 5612 |
Aciduria argininosuccinica (ASL) - Secventiere* | 3000 | 3000 | 4728 |
Acondroplazia - gena FGFR3 - secventiere exon 10* | 4000 | 4000 | 5835 |
ADN Mitocondrial - deletii ale genomului mitocondrial pentru sindroamele Kearns-Sayer, Pearson si CPEO* | 1150 | 1150 | 3600 |
Alfa 1-antitripsina (SERPINA1) - genotipare ARMS-PCR* | 450 | 450 | 4548 |
Alfa 1-antitripsina (SERPINA1) - secventierea* | 1600 | 1600 | 4549 |
Alfa Thalassemie - gena HBA - MLPA* | 1950 | 1950 | 3367 |
Alfa Thalassemie - gena HBA - secventiere* | 3600 | 3600 | 3368 |
Amiotrofie spinala (genele SMN1 si SMN 2) - MLPA* | 2000 | 2000 | 5507 |
Amiotrofie spinala tip I/II/III gena SMN 1 in lichid amniotic* | 5100 | 5100 | 1814 |
Amiotrofie spinala tip I/II/III gena SMN 1 in vilozitati coriale* | 4250 | 4250 | 3002 |
Analiza mutatiilor familiale cunoscute in genele MSH6 si BPTF* | 1100 | 1100 | 5378 |
Anemia Diamond-Blackfan - panel complex de 14 de gene - PLUS, SEQ, DEL/DUP (HE0901)* | 3600 | 3600 | 5471 |
Aneuploidii in alte produse biologice (X, Y, 13, 18, 21) - QF-PCR* | 600 | 600 | 4928 |
Aneuploidii in lichid amniotic (X, Y, 13, 18, 21) - QF-PCR* | 700 | 700 | 3681 |
Aneuploidii in sange EDTA (X, Y, 13, 18, 21) - QF-PCR* | 600 | 600 | 4927 |
Aneuploidii in sperma (X, Y, 13, 15, 16, 17, 18, 21, 22) - FISH* | 2900 | 2900 | 5382 |
Aneuploidii in sperma (X, Y, 13, 16, 18, 21, 22) - FISH* | 1500 | 1500 | 5383 |
Aneuploidii in sperma (X, Y, 13, 18, 21) - FISH* | 1400 | 1400 | 4771 |
Aneuploidii in sperma (X, Y, 18) - FISH* | 1300 | 1300 | 5381 |
Aneuploidii X-Y (analiza sexului cromosomial)* | 650 | 650 | 5384 |
Angioedem ereditar - gena SERPING1 - secventiere* | 1500 | 1500 | 5510 |
Angioedem ereditar tip III - gena factor 12 - secventiere* | 5200 | 5200 | 4961 |
Aortopatie - panel complex de 53 de gene - PLUS, SEQ, DEL/DUP (CA1001)* | 4600 | 4600 | 5421 |
Apolipoproteina A1 si Apolipoproteina B - test genetic hiperlipidemie (gena APOA1, gena APOB)* | 2650 | 2650 | 3249 |
Apolipoproteina E genotipare** | 500 | 500 | 5273 |
Aritmia - panel complex de 58 de gene - PLUS, SEQ, DEL/DUP (CA1601)* | 4600 | 4600 | 5189 |
Ataxia - panel 257 gene - PLUS, SEQ, DEL/DUP (NE2101)* | 5200 | 5200 | 5435 |
Ataxia Friedreich (FRDA gene)* | 1500 | 1500 | 1764 |
Ataxia spinocerebelara de tip 3 (SCA3 gene)* | 1000 | 1000 | 4661 |
Atrezia gastrointestinala - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (MA2801)* | 3600 | 3600 | 5476 |
Atrichia congenitala - mutatia genei HER (hairless gene)* | 18000 | 18000 | 4963 |
Atrofia musculara spinala - gena SMN1 - secventiere Sanger* | 2950 | 2950 | 5516 |
Atrofie musculara spinala si bulbara (SBMA) (Boala Kennedy)-gena AR (KENNED)* | 1500 | 1500 | 3233 |
BCL1/ICH,t(11,14)(q13;q32) - FISH* | 995 | 995 | 5698 |
BCL1/ICH,t(11,14)(q13;q32) - PCR* | 485 | 485 | 5699 |
BCR/ABL - t(;22) FISH* | 800 | 800 | 4454 |
BCR/ABL - t(9;22) cuantificare (P190, P210), RT-PCR* | 800 | 800 | 4695 |
Beta Thalassemia, panel HBB - PCR* | 1300 | 1300 | 6021 |
Biomarkeri pentru tumori solide - panel extins 500 gene - NGS* | 12000 | 12000 | 5648 |
Boala Alzheimer - predispozitie genetica - gena PSEN1, secventiere* | 2200 | 2200 | 4674 |
Boala Alzheimer - predispozitie genetica - gena PSEN2, secventiere (PSEN2)* | 5600 | 5600 | 5296 |
Boala chistica renala (nefronoftizis) - screening 19 gene - secventiere* | 6800 | 6800 | 4673 |
Boala Creutzfeld Jacobs (E200K - PRNP) - secventiere* | 1500 | 1500 | 5531 |
Boala Creutzfeld Jacobs (PRNP) - secventiere* | 1600 | 1600 | 5530 |
Boala Danon (cardiomiopatie vacuolara si miopatie cu transmitere legata de X) - gena LAMP2 - secventiere* | 3500 | 3500 | 4884 |
Boala ficatului polichistic - panel complex de 6 gene - PLUS, SEQ, DEL/DUP (GA0201)* | 3600 | 3600 | 5475 |
Boala granulomatoasa cronica - panel complex de 8 gene - PLUS, SEQ, DEL/DUP (IM0601)* | 3600 | 3600 | 5447 |
Boala Hirschprung - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (MA1801)* | 3600 | 3600 | 5472 |
Boala Niemann-Pick - tipulA/B - gena SMPD1 secventiere* | 1000 | 1000 | 5844 |
Boala Parkinson - panel 82 de gene - PLUS, SEQ, DEL/DUP (NE1501)* | 4600 | 4600 | 5432 |
Boala Parkinson cu debut timpuriu - panel de gene (PARK2, PARK6 (PINK1), PARK 7, PARK8 (LRRK2)) - secventiere NGS* | 4800 | 4800 | 4688 |
Boala Parkinson tip 2 - gena PARK2 - MLPA* | 2200 | 2200 | 5053 |
Boala Parkinson tip 2 - gena PARK2 - secventiere* | 1450 | 1450 | 5052 |
Boala Pelizaeus-Merzbacher - gena PLP1 - MLPA* | 1850 | 1850 | 5850 |
Boala Pompe - Boli cu stocare de glicogen (GAA) – secventiere* | 8000 | 8000 | 4842 |
Boala Pompe - Boli cu stocare de glicogen – MLPA* | 1800 | 1800 | 4843 |
Boala rinichiului polichistic - panel 10 gene - PLUS, SEQ, DEL/DUP (KI2101)* | 3600 | 3600 | 5047 |
Boala Stargardt - gena ABCA4-secventiere* | 14000 | 14000 | 3571 |
Boala Stargardt - gena CNGB3-secventiere* | 9500 | 9500 | 3572 |
Boala Stargardt - gena ELOVL4-secventiere* | 6000 | 6000 | 3573 |
Boala Tay Sachs - gena HEX-A - MLPA* | 1350 | 1350 | 5099 |
Boala Tay Sachs - gena HEX-A - secventiere* | 4850 | 4850 | 5098 |
Boala Tay Sachs - gena HEX-A - secventiere si MLPA* | 5900 | 5900 | 5100 |
Boala vonWillebrand - analiza exonului 28 - subtipurile 2A, 2B, 2M* | 1000 | 1000 | 3047 |
Boala vonWillebrand - analiza genei MLPA* | 2200 | 2200 | 3046 |
Boala vonWillebrand - secventierea genei* | 9200 | 9200 | 3045 |
Boala Waldenstorm, gena CXCR4 de rezistenta la Ibrutinib - secventiere* | 500 | 500 | 4722 |
Boala Wilson - analiza MLPA a genei ATP7B* | 2000 | 2000 | 3659 |
Boala Wilson - mutatia H1069Q in gena ATP7B* | 450 | 450 | 1597 |
Boala Wilson - secventierea genei ATP7B* | 12300 | 12300 | 3658 |
Boli lizozomale si mucopolizaharidoze - panel complex de 102 gene - PLUS, SEQ, DEL/DUP (ME1501)* | 4600 | 4600 | 5449 |
Boli metabolice ereditare - panel complex de 505 gene - PLUS, SEQ, DEL/DUP (ME0701)* | 5200 | 5200 | 5427 |
Boli oncologice hematologice si neoplazii ereditare - panel comprehensiv de 369 de gene - PLUS, SEQ, DEL/DUP (HE1401)* | 5200 | 5200 | 5463 |
BRCA + 16 GENES - panel 18 gene implicate in cancerul de san, ovar, endometru* | 2700 | 2700 | 4466 |
BRCA 2 - analiza unei mutatii familiale* | 1150 | 1150 | 4469 |
BRCA1 - analiza MLPA* | 950 | 950 | 3732 |
BRCA1, BRCA2 - analiza MLPA* | 2000 | 2000 | 5506 |
BRCA2 - analiza MLPA* | 950 | 950 | 3733 |
Cancerul colorectal ereditar - panel complex de 23 de gene - PLUS, SEQ, DEL/DUP (ON0201)* | 3600 | 3600 | 5451 |
Cancerul colorectal non-polipozic tip 1 (MSH2) - secventiere* | 3500 | 3500 | 4572 |
Cancerul colorectal non-polipozic tip 2 (MLH1) - secventiere* | 3500 | 3500 | 4571 |
Cancerul colorectal nonpolipozic ereditar, genele de predispozitie MLH1, MSH2, MSH6 - MLPA* | 2500 | 2500 | 4781 |
Cancerul colorectal nonpolipozic ereditar, genele de predispozitie MSH6, EPCAM - MLPA* | 2000 | 2000 | 5509 |
Cancerul gastrointestinal ereditar - panel complex de 43 de gene - PLUS, SEQ, DEL/DUP (ON1601)* | 4600 | 4600 | 5916 |
Cancerul pancreatic ereditar - panel complex de 22 de gene - PLUS, SEQ, DEL/DUP (ON0301)* | 3600 | 3600 | 5917 |
Cancerul pancreatic ereditar - panel secventiere NGS* | 3900 | 3900 | 5578 |
Cancerul pulmonar (ALK, LSI 2p23) - FISH* | 1250 | 1250 | 4819 |
Cancerul pulmonar ereditar - panel complex de 5 de gene - PLUS, SEQ, DEL/DUP (ON0401)* | 3600 | 3600 | 5899 |
Cardiomiopatia - panel complex de 217 gene - PLUS, SEQ, DEL/DUP (CA1201)* | 5200 | 5200 | 5457 |
Cardiomiopatia aritmogenica de ventricul drept (ARVC) - panel complex de 21 de gene - PLUS, SEQ, DEL/DUP (CA0401)* | 3600 | 3600 | 5437 |
Cardiomiopatia dilatativa - panel complex de 130 de gene - PLUS, SEQ, DEL/DUP (CA2201)* | 5200 | 5200 | 5436 |
Cardiomiopatia hipertrofica - panel complex de 92 de gene - PLUS, SEQ, DEL/DUP (CA1901)* | 4600 | 4600 | 5455 |
Cardiomiopatia prin non-compactare a ventriculului stang (LVNC) - panel de 32 de gene - PLUS, SEQ, DEL/DUP (CA1801)* | 4600 | 4600 | 5048 |
Cardiopatia structurala congenitala - panel complex de 125 gene - PLUS, SEQ, DEL/DUP (CA1501)* | 4600 | 4600 | 5441 |
Cariotip hematologic in maduva osoasa* | 700 | 700 | 5504 |
Cariotip in cordon ombilical (culturi limfocitare)* | 750 | 750 | 5508 |
Cariotip in lichid amniotic* | 750 | 750 | 1528 |
Cariotip in mucoasa coriala* | 750 | 750 | 2133 |
Cariotip in sange (culturi limfocitare)* | 420 | 420 | 4528 |
Cariotip postnatal molecular - array CGH (60k)* | 2600 | 2600 | 4419 |
Cariotip prenatal molecular - array CGH* | 2200 | 2200 | 5512 |
Catepsina D (gena CTSD) - secventiere* | 6900 | 6900 | 3598 |
CBS - Deficit de cistationina beta-sintaza - Homocistinurie (IIe278Thr, Gly307Ser, 844ins68) - screening* | 2150 | 2150 | 5606 |
Chorea Huntington (CHHU)* | 1450 | 1450 | 1624 |
Cistinoza - gena CTNS - secventiere Sanger* | 1500 | 1500 | 5756 |
Citocrom P450 Cyp2C9 (CYP2C9)* | 1950 | 1950 | 5834 |
CMV - rezistenta la terapie - genotipare (GCV, FOS, CDV, Letermovir) (CMVRE)* | 8900 | 8900 | 5361 |
Colestaza - panel complex de 52 de gene - PLUS, SEQ, DEL/DUP (GA0501)* | 4600 | 4600 | 5473 |
Deficienta GLUT 1 - MLPA* | 1950 | 1950 | 5209 |
Deficienta GLUT 1 (gena SLC2A1) - secventiere* | 950 | 950 | 4770 |
Deficienta lipazei acide lizozomale - boala Wolman* | 3825 | 3825 | 3422 |
Deficienta MCAD (gena ACADM) - secventiere exoni 1-10 si 12 - etapa 2* | 8550 | 8550 | 2339 |
Deficienta MCAD (gena ACADM) - secventiere Lys329Glu (=K304E) - etapa 1* | 969 | 969 | 2338 |
Deficit 5 alfa-reductaza tip 2 (SRD5A2), secventiere* | 1500 | 1500 | 4812 |
Deficit 5 alfa-reductaza tip 2- panel* | 25000 | 25000 | 4813 |
Deficit de biotinidaza (gena BTD) - secventiere ADN* | 3600 | 3600 | 3003 |
Deficitul de fumaraza - gena FH - transmitere AR - secventiere Sanger* | 1450 | 1450 | 5020 |
Deficitul de Glucozo-6-Fosfat-Dehidrogenaza - gena G6PD - secventiere* | 1650 | 1650 | 5262 |
Deficitul de ornitin transcarbamilaza OTC - secventiere* | 1450 | 1450 | 5275 |
Deficitul de piridoxamin-5-fosfat oxidaza (PNPO) - secventiere* | 1200 | 1200 | 5311 |
Dementa - panel complex de 58 de gene - PLUS, SEQ, DEL/DUP (NE2301)* | 4600 | 4600 | 5478 |
Detectarea si izolarea ADN uman din diverse produse* | 615 | 615 | 3123 |
Diabet MODY - screening MLPA pentru tipurile 1, 2, 3 si 5* | 2025 | 2025 | 3341 |
Diabet MODY - secventierea completa a genelor HNF1A si GCK, si analiza MLPA (tip 2 si 3)* | 16500 | 16500 | 3332 |
Diabet MODY tip 1 - analiza MLPA a genei HNF4A* | 2025 | 2025 | 3334 |
Diabet MODY tip 1 - secventierea genei HNF4A* | 8200 | 8200 | 3333 |
Diabet MODY tip 2 - analiza MLPA a genei GCK* | 2025 | 2025 | 3336 |
Diabet MODY tip 2 - secventierea genei GCK* | 8200 | 8200 | 3335 |
Diabet MODY tip 3 - analiza MLPA a genei HNF1A (=TCF1)* | 2025 | 2025 | 3338 |
Diabet MODY tip 3 - secventierea genei HNF1A (=TCF1)* | 8200 | 8200 | 3337 |
Diabet MODY tip 5 - analiza MLPA a genei HNF1B* | 2025 | 2025 | 3340 |
Diabet MODY tip 5 - secventierea genei HNF1B* | 8000 | 8000 | 3339 |
Diagnosticul molecular al predispozitiei la neuroblastom - gena ALK (CD246) - secventiere* | 11000 | 11000 | 3719 |
Dischinezie paroxistica kinezigenica (gena PRRT2) - secventiere* | 930 | 930 | 5085 |
Disgenezia gonadica - SRY, microdeletia brat scurt cromosom Y p11.3 (cariotipare si 2 teste FISH)* | 2600 | 2600 | 3606 |
Diskeratosis congenita - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (IM0401)* | 3600 | 3600 | 5464 |
Displazii si tulburari scheletice - panel complex 411 gene - PLUS, SEQ, DEL/DUP (MA3301)* | 5200 | 5200 | 5607 |
Distonia - panel complex de 68 de gene - PLUS, SEQ, DEL/DUP (NE2501)* | 4600 | 4600 | 5701 |
Distonie DYT5 (gena GCH1) - secventiere* | 5200 | 5200 | 3278 |
Distrofia miotonica de tip 1, boala Steinert - gena DMPK - TP-PCR* | 1000 | 1000 | 5837 |
Distrofia musculara Emery-Dreifuss - panel 6 gene - PLUS, SEQ, DEL/DUP (NE0301)* | 3600 | 3600 | 5434 |
Distrofia retiniana ereditara asociata mutatiilor genei RPE65 (terapie genica cu Luxturna) - secventiere Sanger* | 1600 | 1600 | 5093 |
Distrofie miotonica tip II - etapa 1 (PROMM)* | 1700 | 1700 | 1821 |
Distrofie miotonica tip II - etapa 2* | 2700 | 2700 | 1822 |
Distrofie musculara Duchenne/Becker (DMDB)* | 1700 | 1700 | 1644 |
Distrofie musculara facio-scapulo-humerala - FSHD1 - (Landouzy-Dejerine)* | 3900 | 3800 | 6018 |
Distrofie musculara si miopatie - panel complex 161 de gene (include miopatie nemalinica, distrofie musculara, Emery-Dreifuss, tulburari de colagen tip VI) - PLUS, SEQ, DEL/DUP (NE0701)* | 5200 | 5200 | 5424 |
Distrofie musculara tip Emery-Dreifuss - gena LMNA - secventiere* | 6000 | 6000 | 4346 |
EPCR (secventierea genei receptorului proteinei C)** | 700 | 700 | 3243 |
Epidermoliza buloasa - panel complex de 26 gene - PLUS, SEQ, DEL/DUP (DE0301)* | 4600 | 4600 | 5615 |
Epilepsie - panel complex de 511 de gene - PLUS, SEQ, DEL/DUP (NE1001)* | 5200 | 5200 | 5430 |
Factor II - mutatia 20210 (FA2ZH)** | 250 | 250 | 1587 |
Factor Rh - zigozitate (determinarea haplotipului) - nested PCR (RFLP)* | 1300 | 1300 | 5083 |
Factor V - mutatia Cambridge (Arg306Thr)* | 450 | 450 | 4540 |
Factor V - mutatia H1299R (haplotip HR2)** | 550 | 550 | 1786 |
Factor V - mutatia Leiden (FA5ZH)** | 250 | 250 | 1450 |
Febra Mediteraneana Familiala (FMF), gena MEVF - secventiere* | 2800 | 2800 | 4541 |
Fenilcetonuria (PKU) - gena PAH - secventiere (PKU)* | 7400 | 7400 | 3608 |
Fibrilatia atriala - panel complex de 19 gene - PLUS, SEQ, DEL/DUP (CA2001)* | 3600 | 3600 | 5454 |
Fibroza chistica - gena CFTR - mutatia F508del* | 750 | 710 | 6008 |
Fibroza chistica - gena CFTR - secventiere completa* | 5350 | 5350 | 5842 |
Fibroza chistica - mutatia N1303K in lichid amniotic* | 1550 | 1550 | 1732 |
Fibroza chistica - screening CFTR - MLPA* | 1700 | 1700 | 2590 |
Fibroza chistica - screening CFTR in lichid amniotic pentru 36 de mutatii* | 4800 | 4800 | 1637 |
Fibroza chistica - screening CFTR in sange pentru 50 de mutatii* | 900 | 900 | 4543 |
Fibroza hepatica congenitala - panel complex de 52 de gene - PLUS, SEQ, DEL/DUP (GA0101)* | 4600 | 4600 | 5474 |
FIP1L1-PDGFRA - gena de fuziune FIP1-like1-Platelet-Derived-Growth-Factor-Receptor-Alpha (activitatea tirozinkinazei)* | 1300 | 1300 | 4912 |
Fosfomanomutaza 2 - gena PMM2 (tulburari congenitale de glicozilare tip 1a)* | 3200 | 3200 | 3641 |
Fragmentarea ADN - test TUNNEL in sperma congelata - index cu numaratoare (DFIS)* | 500 | 485 | 5897 |
Fragmentarea ADN - test TUNNEL in sperma proaspata - index cu numaratoare (DFI)* | 500 | 485 | 5947 |
Galactozemia (gena GALK1) - secventiere* | 2335 | 2335 | 5603 |
Galactozemia (gena GALT) - MLPA* | 1850 | 1850 | 5208 |
Galactozemia (gena GALT) - secventiere* | 2500 | 2500 | 4933 |
Galactozemie - genotipare GALE, GALK1* | 3850 | 3850 | 5602 |
Gena ABCB11 - secventiere* | 8000 | 8000 | 4670 |
Gena ABCB4 - secventiere* | 8000 | 8000 | 4669 |
Gena ACE (angiotensinconvertaza) variante del/ins* | 250 | 250 | 3276 |
Gena ADGRG2 - PLUS, SEQ, DEL/DUP (S02699)* | 2950 | 2950 | 5919 |
Gena BRAF - mutatii in tumori solide (V600K, V600E2, V600D, V600M, V600G) - HOT SPOT* | 1550 | 1550 | 5586 |
Gena CALR (exon 9) - screening PCR* | 750 | 750 | 4814 |
Gena CASR - secventiere Sanger* | 1985 | 1985 | 5571 |
Gena COMT (Catecol-O-Metiltransferaza) - genotipare (COMT)* | 1115 | 1115 | 5526 |
Gena diaminoxidazei (DAO) – genotipare - PCR* | 1750 | 1750 | 5708 |
Gena DPYD, genotipare exon 14, controlul toxicitatii terapiei cu 5-FU - PCR (DPYD)* | 890 | 890 | 5569 |
Gena EGFR, exonii 18, 19, 20 si 21 - screening Hot Spot* | 1250 | 1250 | 5060 |
Gena ESR1 (receptorul de estrogen alfa) - PLUS, SEQ, DEL/DUP (S03058)* | 2950 | 2850 | 5932 |
Gena filagrinei (dermatita atopica) - cele mai frecvente mutatii* | 1575 | 1575 | 2922 |
Gena GATA 1 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere* | 1000 | 1000 | 5096 |
Gena GATA 2 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere* | 1000 | 1000 | 5095 |
Gena Glutathione-S-transferazei - polimorfism (GSTT1)* | 1400 | 1400 | 4642 |
Gena GNAS - secventiere* | 4400 | 4400 | 3686 |
Gena KCNQ2 - secventiere ADN* | 8100 | 8100 | 3004 |
Gena MEN1 - secventiere Sanger* | 3500 | 3500 | 5717 |
Gena NAD sintetazei 1 (NADSYN1) - variante responsabile de sindromul VCRL3 (vertebral cardiac renal limb syndrome 3)* | 2200 | 2200 | 5414 |
Gena NAGS - secventiere* | 4450 | 4450 | 3445 |
Gena NAT 2 (N-acetiltransferaza)* | 1100 | 1100 | 5505 |
Gena nefrocistinei 8 (RPGRIP1-like sau RPGRIP1L) - variante responsabile de sindromul Joubert 7, sindromul Meckel 5 sau sindromul COACH3* | 2200 | 2200 | 5415 |
Gena NLRP3 (cryopyrin) - sindromul inflamator autoimun indus de frig - secventiere (NLRP3)* | 8800 | 8800 | 3255 |
Gena NTRK1(1q23.1) - test FISH in tesut de biopsie* | 1700 | 1700 | 5583 |
Gena NTRK2 (9q21.3) - test FISH in tesut de biopsie* | 1700 | 1700 | 5584 |
Gena NTRK3 (15q25.3) - test FISH in tesut de biopsie* | 1700 | 1700 | 5585 |
Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 7* | 1000 | 1000 | 3704 |
Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 8* | 1000 | 1000 | 3705 |
Gena PAI 1 - inhibitorul activatorului de plasminogen1 (polimorfism 675 4G/5G)** | 280 | 280 | 1643 |
Gena RET - secventiere* | 10500 | 10500 | 3688 |
Gena RET protooncogena - MLPA* | 2500 | 2500 | 2199 |
Gena RET protooncogena - mutatia Val804Leu* | 1100 | 1100 | 2117 |
Gena ROS1(6q22) - test FISH in tesut de biopsie* | 1600 | 1600 | 5854 |
Gena SCN5A (gena canalelor de sodiu) - secventiere* | 5600 | 5600 | 4996 |
Gena SHOX (insuficienta haploida) - MLPA* | 1700 | 1700 | 4538 |
Gena SHOX (insuficienta haploida) - secventiere* | 2700 | 2700 | 4539 |
Gena SOD1 (superoxid dismutaza)* | 2450 | 2450 | 3234 |
Gena SOD2 (superoxid dismutaza)* | 1800 | 1800 | 5502 |
Gena STAT3 (Signal Transducer and Activator of Transcription 3) - secventiere* | 9800 | 9800 | 4887 |
Gena STAT5b (Signal Transducer and Activator of Transcription 5b) - secventiere* | 9800 | 9800 | 4888 |
Gena STK11 - secventiere* | 5800 | 5800 | 3687 |
Gena THRB a receptorului beta pentru hormoni tiroidieni - secventiere Sanger* | 2300 | 2300 | 5348 |
Gena UGT1A1 polimorfism - tratament irinotecam (UGT1A1)* | 601 | 601 | 5623 |
Genotipare Alpha 1 antitrypsin - allele PI* | 1000 | 1000 | 2943 |
Genotipare Alpha 1 antitrypsin - secventierea completa a genei (AATZH)* | 4800 | 4800 | 2944 |
Genotipare CYP1A2 (Citocrom P450 1A2) - secventiere* | 1000 | 1000 | 4641 |
Genotipare factor Rh(D) - testare moleculara (RHDZH)* | 300 | 300 | 5769 |
Glutation-S-transferaza - genotipare PCR (izoenzime T1, M1, P1) (GSTW)* | 500 | 500 | 4428 |
Hemocromatoza (gena HFE) - mutatiile C282Y, H63D si S65C** | 430 | 410 | 5952 |
Hemocromatoza ereditara - panel complex de 5 gene - PLUS, SEQ, DEL/DUP (ME1101)* | 3600 | 3600 | 5480 |
Hemocromatoza tip 2B (HAMP) - secventiere* | 1450 | 1450 | 4552 |
Hemocromatoza tip 4 - gena SLC40A1 - secventiere Sanger* | 2100 | 2100 | 5655 |
Hemofilia A - analiza genetica intron 1* | 650 | 650 | 1763 |
Hemofilia A - analiza genetica intron 22* | 450 | 450 | 1762 |
Hemofilia A - analiza genetica secventiere* | 4900 | 4900 | 1800 |
Hemofilia A - factor VIII gene MLPA screening* | 2200 | 2200 | 1775 |
Hemofilia B (deficit genetic de factor IX) - secventierea genei F9* | 950 | 950 | 4739 |
HER2 in tumori - analiza genei prin FISH* | 1500 | 1500 | 4934 |
Heterotaxia si situs inversus - panel complex de 34 de gene - PLUS, SEQ, DEL/DUP (CA2301)* | 4600 | 4600 | 5461 |
Hiperlipidemie familiala - panel complex 20 gene - PLUS, SEQ, DEL/DUP (CA1101)* | 3600 | 3600 | 5576 |
Hiperplazie adrenala prin deficit de 21-Hidroxilaza (Gena CYP21A2) - MLPA* | 1250 | 1250 | 5744 |
Hipertensiunea arteriala pulmonara - panel complex de 23 de gene - PLUS, SEQ, DEL/DUP (CA0601)* | 3600 | 3600 | 5442 |
Hipofosfatazia - gena ALPL secventiere si MLPA* | 10350 | 10350 | 3055 |
HLA A Alele (HLAM)* | 300 | 300 | 2724 |
HLA B Alele (HLBM)* | 300 | 300 | 2725 |
HLA B-27 (HB27M)** | 260 | 260 | 1394 |
HLA C tipare epitop C1/C2 (fertilitate) (EPITOP)* | 1200 | 1200 | 5393 |
HLA Cw Alele (HLCM)* | 400 | 400 | 3677 |
HLA DQ Alele (HLDQM)* | 300 | 300 | 3644 |
HLA DQ2 / HLA DQ8 - suspiciune de boala celiaca (PCR)** | 550 | 550 | 4556 |
HLA DR Alele (HLDRM)* | 350 | 350 | 2726 |
HLA tipare - HLA A, HLA B, HLA C, HLA DR, HLA DQ (BUCHLA)* | 1200 | 1200 | 1730 |
HLA-B5701 genotip sensibilitate la Abacavir - PCR* | 495 | 495 | 4574 |
Ichtioza - panel complex de 39 de gene - PLUS, SEQ, DEL/DUP (DE0601)* | 4600 | 4600 | 5608 |
Imunodeficienta combinata severa - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0101)* | 4600 | 4600 | 5445 |
Imunodeficienta primara - panel complex de 336 de gene - PLUS, SEQ, DEL/DUP (IM0301)* | 5200 | 5200 | 5465 |
Insuficienta ovariana prematura - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (EN0901)* | 3600 | 3600 | 5482 |
Interleukina 28B - genotipare (IL28B)* | 235 | 235 | 2504 |
Intoleranta ereditara la fructoza (gena ALDOB-A149P;A175D;N334K) - analiza PCR pentru deletii/duplicatii (FRUCZH)* | 395 | 395 | 5761 |
Intoleranta ereditara la fructoza (gena ALDOB) - secventierea* | 2500 | 2500 | 4562 |
Intoleranta la lactoza - test genetic** | 290 | 290 | 2049 |
K-RAS in tesut biopsie - screening secventierea exonilor 2,3,4* | 1100 | 1100 | 4742 |
K-RAS secventierea genei in sange* | 750 | 750 | 4741 |
KIR - genotipare polimorfism extins (KIR)* | 1200 | 1200 | 5392 |
KIR-HLAC genotipare (polimorfism KIR extins si epitop C1/C2 HLA (KIR+EPITOP)* | 1950 | 1950 | 5394 |
LCHAD test genetic prenatal (secventierea genei 3-hidroxiacil CoA dehidrogenazei)* | 2500 | 2500 | 3706 |
Leucemia acuta mieloida - gena FLT3 - mutatii ITD, fragment A - cleave assay in sange integral sau maduva osoasa* | 1400 | 1400 | 3691 |
Leucemia acuta mieloida - gena NMP1, exon 12 - cleave assay in sange integral sau maduva osoasa* | 1100 | 1100 | 5123 |
Leucemia acuta promielocitara - PML/RAR (t(15;17)(q24;q21)) - Test FISH* | 1150 | 1150 | 5853 |
Leucemia acuta promielocitara - PML/RAR-Test RT - PCR* | 830 | 830 | 5852 |
Leucodistrofie si leucoencefalopatie - panel 118 de gene - PLUS, SEQ, DEL/DUP (NE2001)* | 4600 | 4600 | 5425 |
Limfohistiocitoza hemofagocitara - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (HE1001)* | 3600 | 3600 | 5446 |
Lipofuscinoza Ceroida(CLN) - gena TPP1-secventiere* | 5000 | 5000 | 3637 |
Lipofuscinoza Ceroida(CLN) - gena TPP1, mutatie familiala - TPP1 c.622C>T, p.(Arg208*)* | 900 | 900 | 5494 |
Mannose-binding lectine gena MBL2 - codonii 52, 54 si 57 - secventiere (MBLMG)* | 1200 | 1200 | 4575 |
Marfan syndrome - gena FBN1 - analiza exon 24 - test in vilozitati coriale si test de contaminare cu sange matern* | 3240 | 3240 | 3265 |
Melanom - predispozitie ereditara (genai CDKN2A) - secventiere* | 950 | 950 | 4557 |
Melanomul ereditar si cancerul de piele ereditar - panel complex de 19 gene - PLUS, SEQ, DEL/DUP (ON0501)* | 3600 | 3600 | 5470 |
Metabolizarea cafeinei - test genetic (CYP1A2-163A/C)* | 191 | 191 | 3280 |
Metilentetrahidrofolat reductaza - mutatia 677C>T si mutatia 1298A>C (MTHFR)** | 291 | 291 | 1588 |
Microdeletii brat lung cromosom Y (AZFa, AZFb, AZFc) - screening, multiplex PCR* | 650 | 650 | 5500 |
Migrena - panel complex de 47 de gene - PLUS, SEQ, DEL/DUP (NE1201)* | 4600 | 4600 | 5479 |
Migrena hemiplegica familiala - MLPA pentru deletii/duplicatii in genele CACNA1A si SCN1A* | 2250 | 2250 | 3596 |
Migrena hemiplegica familiala - secventierea genei ATP1A2 (FHM2)* | 4200 | 4200 | 3594 |
Migrena hemiplegica familiala - secventierea genei CACNA1A (FHM1)* | 12500 | 12500 | 3593 |
Migrena hemiplegica familiala - secventierea genei SCN1A (FHM3)* | 8500 | 8500 | 3595 |
Miotonia congenitala - gena CLCN1 - MLPA* | 1100 | 1100 | 5054 |
Miotonia congenitala - gena CLCN1 - secventiere NGS* | 5500 | 5500 | 5170 |
MSI - Test de instabilitate microsatelitara - FRAGMENT A* | 1985 | 1985 | 5535 |
Mutatia BRAF V600E* | 850 | 850 | 2553 |
Mutatia c-kit D816V - Mastocitoza sistemica (CKITPC)* | 1050 | 1050 | 5706 |
Mutatia Factor XIII - Val34Leu (FA13ZH)** | 450 | 450 | 4526 |
Mutatia genei ANKH* | 9000 | 9000 | 4907 |
Mutatie familiala simpla punctiforma* | 1000 | 1000 | 4690 |
Mutatii K-RAS in tumori de colon* | 1250 | 1250 | 4501 |
Mutatiile genelor STAT3 si STAT5b (Signal Transducer and Activator of Transcription) - secventiere* | 12500 | 12500 | 4889 |
MyPGx - test complex de farmacogenetica - panel 29 de gene* | 2000 | 2000 | 5923 |
MyPGx CARDIO - test complex de farmacogenetica - panel cardiologie* | 2800 | 2800 | 4911 |
MyPGx Complet - test complex de farmacogenetica - panel 33 de gene* | 4500 | 4500 | 4908 |
MyPGx GASTRO - test complex de farmacogenetica - panel gastroenterologie* | 2800 | 2800 | 5113 |
MyPGx PSY - test complex de farmacogenetica - panel neuropsihiatrie* | 2800 | 2800 | 4909 |
MyPGx RHUMA - test complex de farmacogenetica - panel reumatologie* | 2800 | 2800 | 4910 |
Neurofibromatoza - panel complex de 9 gene - PLUS, SEQ, DEL/DUP (MA1501)* | 3600 | 3600 | 5452 |
Neuropatia Charcot-Marie-Tooth - panel 153 de gene - PLUS, SEQ, DEL/DUP (NE1301)* | 5200 | 5200 | 5431 |
Neuropatie ereditara cu pareza indusa de presiune (HNPP) (GJB1, MPZ, PMP22, MFN2) - secventiere* | 15500 | 15500 | 4717 |
Neuropatie optica ereditara de tip Kjer (gena OPA1) - MLPA* | 2000 | 2000 | 3407 |
Neuropatie optica ereditara de tip Kjer (gena OPA1) - secventiere* | 14000 | 14000 | 3406 |
Neuropatie optica ereditara Leber (LHON) - PCR si secventierea genomului mitocondrial in genele ND1, ND4, ND6, - mutatiile: m.11778G>A, m.3460G>A, m.14484T>A* | 2000 | 2000 | 3404 |
Neutropenia congenitala - panel complex de 28 de gene - PLUS, SEQ, DEL/DUP (IM0501)* | 4600 | 4600 | 5468 |
NIPT neoBona - Trisomiile 21, 18, 13 + sex fetal* | 1950 | 1950 | 3417 |
NIPT neoBona Advanced - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y)* | 2150 | 2150 | 3418 |
NIPT neoBona GenomeWide - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) + toti cromosomii autosomali* | 2750 | 2750 | 5401 |
NIPT Panorama - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) + microdeletia 22q11 (DiGeorge)* | 2650 | 2650 | 5524 |
NIPT Panorama Extins - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) + microdeletiile 22q11 (DiGeorge), 1p36, Angelman, Prader - Willi, Cri-du-Chat* | 2950 | 2950 | 5525 |
Obezitatea monogenica - panel complex de 41 de gene - PLUS, SEQ, DEL/DUP (KI1701)* | 4600 | 4600 | 5483 |
Osteogenesis Imperfecta - gena COL1A1 - MLPA* | 2000 | 2000 | 2683 |
Osteogenesis Imperfecta - gena COL1A2 - MLPA* | 2000 | 2000 | 2685 |
Osteogenesis Imperfecta - gena CRTAP - secventiere* | 4000 | 4000 | 4692 |
Osteomalacia hipofosfatemica - test genetic FGF23, MLPA* | 3200 | 3200 | 2921 |
Osteomalacia hipofosfatemica - test genetic FGF23, secventiere* | 4300 | 4300 | 2920 |
Palmoplantar Keratoderma - panel complex de 26 gene - PLUS, SEQ, DEL/DUP (DE0901)* | 4600 | 4600 | 5657 |
Pancreatita acuta, cronica si cronica recurenta - panel complex de 9 gene - PLUS, SEQ, DEL/DUP (GA0301)* | 3600 | 3600 | 5477 |
Pancreatita cronica idiopatica (N3S - SPINK1) - screening* | 650 | 650 | 4565 |
Panel BRCA +17 gene - secventiere NGS* | 4000 | 4000 | 5771 |
Panel leucemia acuta mieloida - 9 gene - FISH* | 4500 | 4500 | 5851 |
Paraplegia spastica - panel complex de 75 de gene - PLUS, SEQ, DEL/DUP (NE0501)* | 4600 | 4600 | 5450 |
Paraplegie spastica - gena ATL1/SPG3 - secventiere si analiza deletiilor/duplicatiilor* | 8775 | 8775 | 3053 |
Polineuropatia Amiloida Familiala (gena TTR) - secventiere* | 1700 | 1700 | 4558 |
Polipoza adenomatoasa familiala - gena APC - MLPA* | 1200 | 1200 | 4991 |
Polipoza adenomatoasa familiala - gena APC - NGS* | 2500 | 2500 | 4990 |
Porfiria acuta intermitenta - gena HMBS - MLPA pentru deletii/duplicatii* | 1600 | 1600 | 2663 |
Porfiria acuta intermitenta - gena HMBS - o mutatie familiala* | 1200 | 1200 | 4929 |
Porfiria acuta intermitenta - gena HMBS - secventierea genei* | 6000 | 6000 | 4930 |
Pseudoxanthoma Elasticum - mutatia genei ABCC6 - NGS* | 4900 | 4900 | 5719 |
Rahitismul hipofosfatemic - panel complex de 13 gene - PLUS, SEQ, DEL/DUP (KI1301)* | 3600 | 3600 | 5448 |
Receptor androgen (gena AR) - secventiere si MLPA (EX12L)* | 7200 | 7200 | 4638 |
Receptorul FSH - polimorfism genetic Ser680Asn* | 900 | 900 | 5839 |
Retinita pigmentara cu transmitere autosomal recesiva, secventierea genei RHO* | 750 | 750 | 4686 |
Retinita pigmentara cu transmitere legata de X, gena RP2 - MLPA* | 950 | 950 | 4746 |
Retinita pigmentara cu transmitere legata de X, secventierea genei RP2* | 750 | 750 | 4687 |
Retinitis pigmentosa - panel complex de 159 de gene - PLUS, SEQ, DEL/DUP (OP0901)* | 5200 | 5200 | 5539 |
Rett syndrome (gena MECP2) - MLPA* | 1400 | 1400 | 4569 |
Rett syndrome (gena MECP2) - secventiere si MLPA* | 2700 | 2700 | 4570 |
Scleroza laterala amiotrofica - panel 35 de gene - PLUS, SEQ, DEL/DUP (NE2201)* | 4600 | 4600 | 5433 |
Scleroza laterala amiotrofica sporadica / familiala - mutatia H46R* | 1680 | 1680 | 2461 |
Scleroza laterala amiotrofica sporadica / familiala - secventierea genei SOD1* | 3240 | 3240 | 2462 |
Scleroza tuberoasa - panel 2 gene - TSC1, TSC2 - PLUS (ON1401)* | 3600 | 3600 | 5637 |
Screening reproductiv - panel complex de 460 de gene - PLUS, SEQ, DEL/DUP (CS0001)* | 3900 | 3900 | 5774 |
Screening reproductiv masculin de baza - panel complex de 114 de gene - PLUS, SEQ, DEL/DUP (CS0008)* | 3400 | 3400 | 5927 |
Screening reproductiv masculin extins - panel complex de 433 de gene - PLUS, SEQ, DEL/DUP (CS0007)* | 3900 | 3900 | 5930 |
Sindrom Aicardi-Goutieres - panel 7 gene - PLUS, SEQ, DEL/DUP (ME1201)* | 3600 | 3600 | 5422 |
Sindrom Alagille - mutatia genei JAG1 - secventiere si MLPA* | 10200 | 10200 | 2918 |
Sindrom Alagille - mutatia genei NOTCH2 - secventiere* | 13000 | 13000 | 2919 |
Sindrom Apert - gena FGFR2 - secventiere* | 7200 | 7200 | 3605 |
Sindrom Ataxia Telangiectasia - Louis Bar - gena ATM - secventiere NGS* | 7500 | 7500 | 4583 |
Sindrom CADASIL (gena NOTCH3) - MLPA* | 1400 | 1400 | 5838 |
Sindrom Criegler-Najjar tip I/II - gena UGT1A1 (CNS)* | 4500 | 4500 | 2334 |
Sindrom Gilbert - gena UGT1A1 (MEUL)* | 601 | 601 | 1271 |
Sindrom Niemann-Pick tip C (gena NPC1) - secventiere* | 7500 | 7500 | 3701 |
Sindrom QT lung (LQTS) - panel 18 gene - PLUS, SEQ, DEL/DUP (CA0301)* | 3600 | 3600 | 5423 |
Sindrom SLOS (Smith - Lemli - Opitz)* | 3575 | 3575 | 2657 |
Sindrom Sotos - diagnostic etapa 1 - Gena NSD1 - MLPA* | 1700 | 1700 | 4724 |
Sindrom Sotos - diagnostic etapa 2 - Gena NSD1 - secventiere* | 8800 | 8800 | 4725 |
Sindrom Sotos - Gena NSD1 - NGS* | 5000 | 5000 | 4723 |
Sindrom Von Hippel-Lindau - secventiere si MLPA* | 3825 | 3825 | 2740 |
Sindrom Wolf-Hirschhorn (culturi cromosomiale si FISH)* | 2500 | 2500 | 1837 |
Sindromul Alport - gena COL4A3 - secventiere* | 5000 | 5000 | 4800 |
Sindromul Alport - gena COL4A4 - secventiere* | 5000 | 5000 | 4799 |
Sindromul Alport - gena COL4A5 - secventiere* | 5000 | 5000 | 4801 |
Sindromul Angelman - deletii si duplicatii (15q11-13-STR) - MS-MLPA* | 1100 | 1100 | 5080 |
Sindromul Angelman (gena UBE3A) - secventiere* | 4000 | 4000 | 4537 |
Sindromul Bartter, tip 1 (gena SLC12A1) - secventiere* | 4500 | 4500 | 4792 |
Sindromul Bartter, tip 3 (gena CLCNKB) - secventiere* | 4500 | 4500 | 4790 |
Sindromul Bartter, tip 3, 4B (gena CLCNKB) - MLPA* | 2350 | 2350 | 5579 |
Sindromul Bartter, tip 4B (gena CLCNKA) - secventiere* | 4500 | 4500 | 4788 |
Sindromul Beckwith-Wiedemann - test genetic MLPA* | 750 | 750 | 2170 |
Sindromul Bloch–Sulzberger (Incontinentia pigmenti) - gena IKBKG - MLPA si secventiere* | 6000 | 6000 | 5044 |
Sindromul Brugada - panel complex de 7 gene - PLUS, SEQ, DEL/DUP (CA0901)* | 3600 | 3600 | 5439 |
Sindromul Charcot-Marie-Tooth tip 1A (CMT1A) (gena PMP22) - secventiere* | 1800 | 1800 | 4567 |
Sindromul Charcot-Marie-Tooth tip 1A (gena PMP22) - MLPA* | 1450 | 1450 | 4716 |
Sindromul Charcot-Marie-Tooth tip 1B, 2I, 2J, intermediar AD (gena MPZ) - secventiere Sanger* | 1800 | 1800 | 4568 |
Sindromul CHARGE - gena CHD-7* | 5500 | 5500 | 2154 |
Sindromul de insuficienta medulara - panel complex de 156 de gene - PLUS, SEQ, DEL/DUP (HE0801)* | 5200 | 5200 | 5444 |
Sindromul deficientei cerebrale a creatininei (gena GAMT) - secventiere* | 2850 | 2850 | 4769 |
Sindromul Dravet - gena SCN1A - PLUS (S01621)* | 2950 | 2850 | 6016 |
Sindromul Dravet - gena SCN1B - secventiere* | 3300 | 3300 | 2655 |
Sindromul Dravet - gena SCN9A - secventiere* | 9800 | 9800 | 2656 |
Sindromul Ehlers-Danlos - panel complex de 41 de gene - PLUS, SEQ, DEL/DUP (CA0101)* | 4600 | 4600 | 5459 |
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A1 - MLPA* | 2000 | 2000 | 2677 |
Sindromul Ehlers-Danlos - Tip IV (vascular) - gena COL3A1 - MLPA* | 2000 | 2000 | 2679 |
Sindromul Ehlers-Danlos - Tip VIIa+b (artrocalazia) - cei mai comuni exoni ai genelor COL1A1 si COL1A2 - MLPA* | 4000 | 4000 | 2681 |
Sindromul Ehlers-Danlos - Tip VIIa+b (artrocalazia) - cei mai comuni exoni ai genelor COL1A1 si COL1A2 - secventiere* | 5700 | 5700 | 2680 |
Sindromul Fahr (Calcificare idiopatica a ganglionilor bazali (IBGC)) - secventiere NGS panel 6 gene (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, JAM2_11181 bp_ID327.00)* | 6500 | 6500 | 5487 |
Sindromul Iov - Hiperimunoglobulina E - (genele DOCK8,SPINK5,STAT3) - NGS* | 6500 | 6500 | 4420 |
Sindromul Joubert - panel complex de 36 de gene - PLUS, SEQ, DEL/DUP (KI1001)* | 4600 | 4600 | 5466 |
Sindromul Lesch-Nyhan, mutatia familiala cunoscuta - gena HPRT1 - Sanger* | 900 | 900 | 5843 |
Sindromul Liddle - panel 2 gene (SCNN1B, SCNN1G) - PLUS, SEQ, DEL/DUP (CA1401)* | 3600 | 3600 | 5456 |
Sindromul Loeys-Dietz, genele TGFBR 1 si 2, secventiere NGS (LOEYS)* | 15500 | 15500 | 4950 |
Sindromul Marfan si tulburari asociate - panel 36 de gene - PLUS, SEQ, DEL/DUP (CA0801)* | 4600 | 4600 | 5462 |
Sindromul MELAS - PCR-RFLP cantitativ - detectarea mutatiei m.3243G>A din gena MT-TL1 a genomului mitocondrial* | 2100 | 2100 | 1824 |
Sindromul Menkes - analiza MLPA a genei ATP7A* | 1200 | 1200 | 4759 |
Sindromul Menkes - secventierea genei ATP7A* | 4800 | 4800 | 4760 |
Sindromul MERRF - PCR-RFLP cantitativ - detectarea mutatiei m.8344A>G din gena MT-TK a genomului mitocondrial* | 1900 | 1900 | 1924 |
Sindromul mieloproliferativ cronic - gena JAK 2 exon 12 - Hot Spot* | 650 | 650 | 5840 |
Sindromul Muenke - mutatia c.749C>G (p.Pro250Arg) a genei FGFR3 - secventiere* | 1200 | 1200 | 4509 |
Sindromul NARP/Leigh - PCR-RFLP cantitativ - detectarea mutatiilor m.8993T>G si m.8993T>C din gena MT-ATP6 a genomului mitocondrial* | 1700 | 1700 | 3602 |
Sindromul nefrotic - panel complex de 96 de gene - PLUS, SEQ, DEL/DUP (KI0401)* | 4600 | 4600 | 5443 |
Sindromul Noonan - gena PTPN11 - secventiere* | 3300 | 3300 | 4679 |
Sindromul Noonan - gena RAF1 - secventiere* | 3300 | 3300 | 4683 |
Sindromul Noonan - gena RIT1 - secventiere* | 760 | 760 | 4681 |
Sindromul Noonan - gena SOS1 - secventiere* | 3300 | 3300 | 4680 |
Sindromul Noonan - panel complex de 36 de gene - PLUS, SEQ, DEL/DUP (CA0501)* | 4600 | 4600 | 5440 |
Sindromul Noonan - panel genele MAP2K1, PTPN11, KRAS, SOS1, RAF1, BRAF, NRAS, RIT1 - NGS* | 3700 | 3700 | 4684 |
Sindromul Prader Willi - deletii si duplicatii (15q11-13-STR) - MS-MLPA* | 1100 | 1100 | 5076 |
Sindromul Prader-Willy (PWA)* | 2600 | 2600 | 1673 |
Sindromul QT scurt - panel de 5 gene (CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1) - PLUS, SEQ, DEL/DUP (CA2101)* | 3600 | 3600 | 5458 |
Sindromul Rett atipic (gena CDKL5/STK9) - MLPA si secventiere* | 9050 | 9050 | 3295 |
Sindromul rinichiului polichistic - gena PKD1 - secventiere si MLPA* | 16000 | 16000 | 5062 |
Sindromul rinichiului polichistic - gena PKD1+PKD2 - secventiere si MLPA* | 16500 | 16500 | 5064 |
Sindromul rinichiului polichistic - gena PKD2 - secventiere si MLPA* | 16000 | 16000 | 5063 |
Sindromul TRAPS (febra hiberniana familiala) (gena TNFRSF1) - secventiere completa* | 3000 | 3000 | 4547 |
Sindromul Wiedemann-Steiner - mutatia c.11430-6del a genei KMT2A - secventiere Sanger* | 700 | 700 | 5660 |
Sindromul Williams-Beuren - gena 7q11 - analiza cromozomiala din limfocite, inclusiv test FISH (WB7Q)* | 1900 | 1900 | 3383 |
Sindromul Williams-Beuren - gena 7q11 - MLPA (WB)* | 2200 | 2200 | 1674 |
Sindromul X fragil (gena FMR1 - FRAXA) - screening, mTP-PCR* | 1500 | 1500 | 5501 |
Sindromul X fragil (gena FMR2 - FRAXE) - screening, TP-PCR* | 1400 | 1400 | 4545 |
SLOS - sindromul Smith-Lemli-Opitz - gena DHCR7 - secventiere Sanger in lichid amniotic* | 1200 | 1200 | 5105 |
Surditate ereditara / hipoacuzie (gena GJB2) - secventiere* | 1350 | 1350 | 5491 |
Surditate ereditara / hipoacuzie (panel gene GJB2, GJB6, OTOF) - (NGS)* | 7400 | 7400 | 4561 |
Surditate non-sindromica / hipoacuzie - secventiere si MLPA* | 4000 | 4000 | 4794 |
Surditate non-sindromica (gena-GJB2) - mutatia 35delG - secventiere* | 750 | 710 | 6009 |
Tahicardia ventriculara cu polimorfism catecolaminergic - panel complex de 10 gene - PLUS, SEQ, DEL/DUP (CA0701)* | 3600 | 3600 | 5453 |
Telangiectazia hemoragica ereditara - panel complex de 6 gene - PLUS, SEQ, DEL/DUP (CA0201)* | 3600 | 3600 | 5460 |
Test de identificare ADN din diverse produse biologice* | 1800 | 1800 | 3628 |
Test de paternitate (1 copil) (VATER)* | 2200 | 2100 | 6012 |
Test de paternitate (2 copii) (VATER)* | 3200 | 3100 | 6013 |
Test de paternitate (3 copii) (VATER)* | 4200 | 4100 | 6014 |
Testarea variantelor familiale (1-10 variante) - PLUS, SEQ, DEL/DUP (FVT001)* | 2000 | 1900 | 5999 |
Testarea variantelor specifice (1-10 variante) - PLUS, SEQ, DEL/DUP (TVT001)* | 2400 | 2280 | 6000 |
Tetraplegie spastica (gena SPG4) - test genetic* | 6500 | 6500 | 1432 |
TFE3 test FISH pentru carcinom renal cu translocatie Xp11 asociata* | 1700 | 1700 | 5849 |
Trombocitemia esentiala, sindromul mieloproliferativ cronic - mutatii in gena receptorului de trombopoietina - MPL(W515L/K) - HotSpot* | 850 | 850 | 5171 |
Trombofilie - beta-Fibrinogen - gena FGB (455G>A)* | 695 | 695 | 5604 |
Trombofilie - predispozitie genetica, panel extins - factor V mutatiile Leiden si HR2, factor II mutatia 20210, MTHFR mutatiile 1298A>C si 677C>T, factor Xlll mutatia V34L, PAI-1 polimorfism 4G/5G, EPCR mutatiile 4600A>G si 4678G>C - CVD Strip Assay T, reverse hybridization** | 800 | 800 | 5329 |
Trombofilie panel I risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210, MTHFR mutatia C677T** | 400 | 400 | 3099 |
Trombofilie panel II risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210, MTHFR mutatiile C677T si A1298C** | 450 | 450 | 3100 |
Trombofilie panel III risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210** | 350 | 350 | 5332 |
Trombofilie panel IV risc genetic - Factor V mutatia Leiden, Factor II 20210, MTHFR mutatiile C677T si A1298C, PAI1 4G/5G** | 650 | 650 | 3177 |
Tulburari congenitale ale mono - si dizaharidelor - panel complex de 9 gene - PLUS, SEQ, DEL/DUP (ME2301)* | 3600 | 3600 | 5481 |
Tulburari congenitale de glicozilare - panel 48 de gene - PLUS, SEQ, DEL/DUP (ME1901)* | 4600 | 4600 | 5428 |
Tulburari din spectrul autist - panel 75 de gene - PLUS, SEQ, DEL/DUP (NE0101)* | 4600 | 4600 | 5485 |
Tulburari hematologice - panel complex de 270 de gene - PLUS, SEQ, DEL/DUP (HE0101)* | 5200 | 5200 | 5587 |
Tulburari mitocondriale - panel complex 37 gene - PLUS, SEQ, DEL/DUP (MI0101)* | 4600 | 4600 | 5575 |
Tulburarile de deficit ale factorilor de coagulare - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (HE0501)* | 3600 | 3600 | 5484 |
Tulburarile sistemului complement - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0701)* | 4600 | 4600 | 5467 |
Vitreo-retinopatiile - panel complex de 24 de gene - PLUS, SEQ, DEL/DUP (OP0701)* | 3600 | 3600 | 5469 |
WES PLUS - secventierea exomului uman (>3750 de gene cu implicatie clinica PLUS SEQ, CNV, DEL/DUP) (WE0501)* | 6500 | 6300 | 5426 |