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)* 6500 6500 5612
Aciduria argininosuccinica (ASL) - Secventiere* 3000 3000 4728
Acondroplazia - gena FGFR3 - secventiere exon 10  4000 2800 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 5379
Anemia Diamond-Blackfan - panel complex de 14 de gene - PLUS, SEQ, DEL/DUP (HE0901)* 5600 5600 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)* 6500 6500 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)* 5800 5800 5189
Ataxia - panel 257 gene - PLUS, SEQ, DEL/DUP (NE2101)* 8500 8500 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)* 5600 5600 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, screening panel HBB - Hot Spot* 1300 1300 5511
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 Fabry deficitul alpha-galactozidazei - etapa 1 secventierea genei GLA * 3400 3400 3132
Boala Fabry deficitul alpha-galactozidazei - etapa 2 MLPA gena GLA* 2200 2200 3133
Boala ficatului polichistic - panel complex de 6 gene -  PLUS, SEQ, DEL/DUP (GA0201)* 5600 5600 5475
Boala granulomatoasa cronica - panel complex de 8 gene -  PLUS, SEQ, DEL/DUP (IM0601)* 5600 5600 5447
Boala Hirschprung - panel complex de 15 gene -  PLUS, SEQ, DEL/DUP (MA1801)* 5600 5600 5472
Boala Niemann-Pick - tipulA/B - gena SMPD1 secventiere 1000 1000 5844
Boala Parkinson - panel 82 de gene - PLUS, SEQ, DEL/DUP (NE1501)* 6500 6500 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 Pompe - Boli cu stocare de glicogen – MLPA* 1800 1800 4843
Boala Pompe - Boli cu stocare de glicogen (GAA) – secventiere* 8000 8000 4842
Boala rinichiului polichistic - panel 10 gene - PLUS, SEQ, DEL/DUP (KI2101)* 5000 5000 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 si MLPA* 5900 5900 5100
Boala Tay Sachs - gena HEX-A - secventiere* 4850 4850 5098
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)* 6500 6500 5449
Boli metabolice ereditare - panel complex de 505 gene - PLUS, SEQ, DEL/DUP (ME0701)* 8500 8500 5427
Boli oncologice hematologice si neoplazii ereditare - panel comprehensiv de 369 de gene -  PLUS, SEQ, DEL/DUP (HE1401)* 8500 8500 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)* 5600 5600 5451
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 colorectal non-polipozic tip 1 (MSH2) - secventiere* 3500 3500 4572
Cancerul colorectal non-polipozic tip 2 (MLH1) - secventiere* 3500 3500 4571
Cancerul pancreatic ereditar - panel secventiere NGS * 3900 3900 5578
Cancerul pulmonar (ALK, LSI 2p23) - FISH* 1250 1250 4819
Cardiomiopatia - panel complex de 217 gene - PLUS, SEQ, DEL/DUP (CA1201)* 8500 8500 5457
Cardiomiopatia aritmogenica de ventricul drept (ARVC) - panel complex de 21 de gene - PLUS, SEQ, DEL/DUP (CA0401)* 5600 5600 5437
Cardiomiopatia dilatativa - panel complex de 130 de gene - PLUS, SEQ, DEL/DUP (CA2201)* 8500 8500 5436
Cardiomiopatia hipertrofica - panel complex de 92 de gene - PLUS, SEQ, DEL/DUP (CA1901)* 6500 6500 5455
Cardiomiopatia prin non-compactare a ventriculului stang (LVNC) - panel de 32 de gene - PLUS, SEQ, DEL/DUP (CA1801)* 5000 5000 5048
Cardiopatia structurala congenitala - panel complex de 125 gene - PLUS, SEQ, DEL/DUP (CA1501)* 6500 6500 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 1649
Cistinoza - gena CTNS - secventiere Sanger* 1500 1500 5756
Citocrom P450 Cyp2C9 (CYP2C9) 1950 690 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)* 6500 6500 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)* 6500 6500 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)* 5600 5600 5464
Displazii si tulburari scheletice - panel complex 411 gene - PLUS, SEQ, DEL/DUP (MA3301)* 8500 8500 5607
Distonia - panel complex de 68 de gene - PLUS, SEQ, DEL/DUP (NE2501)* 6500 6500 5701
Distonie DYT5 (gena GCH1) - screening MLPA* 1900 1900 3279
Distonie DYT5 (gena GCH1) - secventiere* 5200 5200 3278
Distrofia musculara Emery-Dreifuss - panel 6 gene - PLUS, SEQ, DEL/DUP (NE0301)* 5600 5600 5434
Distrofia retiniana ereditara asociata mutatiilor genei RPE65 (terapie genica cu Luxturna) - secventiere Sanger * 1600 1600 5093
Distrofia miotonica de tip 1, boala Steinert - gena DMPK - TP-PCR 1000 1000 5837
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 (Landouzy-Dejerine)* 2700 2700 5397
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)* 8500 8500 5424
Distrofie musculara tip Emery-Dreifuss - gena LMNA - secventiere* 6000 6000 4346
EPCR (secventierea genei receptorului proteinei C)* 700 700 3243
Epidermoliza buloasa - panel 26 gene - PLUS* 6500 6500 5615
Epilepsie - panel complex de 511 de gene - PLUS, SEQ, DEL/DUP (NE1001)* 8500 8500 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 - MLPA* 1800 1800 3609
Fenilcetonuria (PKU) - gena PAH - secventiere* 7400 7400 3608
Fibrilatia atriala - panel complex de 19 gene - PLUS, SEQ, DEL/DUP (CA2001)* 5600 5600 5454
Fibroza chistica - gena CFTR - mutatia F508del - PCR* 600 600 1616
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)* 6500 6500 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 - index cu numaratoare (DFIS) * 385 385 5619
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 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 - mutatia T790M în exonul 20 - RT-PCR+PNA* 1450 1450 5058
Gena EGFR, exonii 18, 19, 20 si 21 - NGS* 4000 4000 5059
Gena EGFR, exonii 18, 19, 20 si 21 - screening Hot Spot* 1250 1250 5060
Gena EGFR, exonii 19 si 21 - screening RT-PCR+PNA* 1700 1700 5057
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 - analiza delectiilor/duplicatiilor* 2350 2350 3447
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* 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 PIK3CA, exonii 9 si 20 - PCR + PNA * 1300 1300 5090
Gena POLG - secventiere* 8900 8900 3421
Gena RELN - secventiere* 20000 20000 2097
Gena RET - secventiere* 10500 10500 3688
Gena RET protooncogena - MLPA* 2500 2500 2199
Gena RET protooncogena - mutatia Val804Leu* 1100 1100 2117
Gena RET protooncogena - secventiere exoni 10, 11, 13-16* 4400 4400 2197
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* 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 si H63D* 430 430 3277
Hemocromatoza ereditara - panel complex de 5 gene - PLUS, SEQ, DEL/DUP (ME1101)* 5600 5600 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)* 6500 6500 5461
Hiperlipidemie familiala - panel complex 20 gene - PLUS, SEQ, DEL/DUP (CA1101)* 5600 5600 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)* 5600 5600 5442
Hipoacuzie non-sindromica (gena-GJB2) - mutatia 35delG* 680 680 5752
Hipofibrinogenemia familiala - panel 3 gene (FGA, FGB, FGG) - secventiere* 4700 4700 5391
Hipofosfatazia - gena ALPL secventiere si MLPA* 10350 10350 3055
Hipofosfatemia X-linked - gena PHEX secventiere* 11250 11250 3056
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)* 6500 6500 5608
Imunodeficienta combinata severa - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0101)* 6500 6500 5445
Imunodeficienta primara - panel complex de 336 de gene - PLUS, SEQ, DEL/DUP (IM0301)* 8500 8500 5465
Insuficienta ovariana prematura - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (EN0901)* 5600 5600 5482
Interleukina 28B - genotipare (IL28B)* 235 235 2504
Intoleranta ereditara la fructoza (gena ALDOB) - secventierea* 2500 2500 4562
Intoleranta ereditara la fructoza (gena ALDOB-A149P;A175D;N334K) - analiza PCR pentru deletii/duplicatii (FRUCZH)* 395 395 5761
Intoleranta la lactoza - test genetic* 290 290 2049
KIR - genotipare polimorfism extins (KIR)* 1200 1200 5392
KIR-HLAC genotipare (polimorfism KIR extins si epitop C1/C2 HLA (KIR+EPITOP)* 1950 1950 5394
K-RAS in tesut biopsie - screening secventierea exonilor 2,3,4 * 1100 1100 4742
K-RAS secventierea genei in sange  * 750 750 4741
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 este * 1400 1400 3691
Leucemia acuta mieloida - gena NMP1, exon 12 - cleave assay in sange integral sau maduva osoasa* 1100 1100 5123
Leucodistrofie si leucoencefalopatie - panel 118 de gene - PLUS, SEQ, DEL/DUP (NE2001)** 6500 6500 5425
Limfohistiocitoza hemofagocitara - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (HE1001)* 5600 5600 5446
Lipofuscinoza Ceroida(CLN) - gena CTSD-secventiere* 4500 4500 3639
Lipofuscinoza Ceroida(CLN) - gena PPT1-secventiere* 3500 3500 3636
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)* 5600 5600 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
Mielom multiplu - panel de mutatii in genele p53 (del13q, del17p13.1), SRD (amp/del1p36/1q21), IgH/CCND1 t (11;1'), IgH/FGFR3 t(';1'), IgH/MAF t(1';16) - FISH in sange/maduva osoasa* 2000 2000 4734
Migrena - panel complex de 47 de gene - PLUS, SEQ, DEL/DUP (NE1201)* 6500 6500 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 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)* 5600 5600 5452
Neurofibromatoza de tip 2 - gena NF2 - secventiere + CNV* 8000 8000 5017
Neurofibromatoza tip 1 (gena NF1) - analiza MLPA pentru deletia 1500bp* 1900 1900 2044
Neurofibromatoza tip 1 (gena NF1) - cariotip si test FISH pentru cele mai comune deletii/duplicatii ale genei NF1* 1850 1850 3604
Neurofibromatoza tip 1 (gena NF1) - screening MLPA pentru cele mai comune deletii/duplicatii ale genei NF1* 3700 3700 2045
Neurofibromatoza tip 1 (gena NF1) - secventierea genei NF1* 19350 19350 2046
Neuropatia Charcot-Marie-Tooth - panel 153 de gene - PLUS, SEQ, DEL/DUP (NE1301)* 8500 8500 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)* 6500 6500 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)* 6500 6500 5483
Osteogenesis Imperfecta - gena COL1A1 - MLPA* 2000 2000 2683
Osteogenesis Imperfecta - gena COL1A1 - secventiere* 12500 12500 2682
Osteogenesis Imperfecta - gena COL1A2 - MLPA* 2000 2000 2685
Osteogenesis Imperfecta - gena COL1A2 - secventiere* 12500 12500 2684
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)* 6500 6500 5657
Pancreatita acuta, cronica si cronica recurenta - panel complex de 9 gene -  PLUS, SEQ, DEL/DUP (GA0301)* 5600 5600 5477
Pancreatita cronica idiopatica (N3'S - SPINK1) - screening* 650 650 4565
Panel BRCA +17 gene - secventiere NGS* 4000 4000 5771
Paraplegia spastica - panel complex de 75 de gene -  PLUS, SEQ, DEL/DUP (NE0501)* 6500 6500 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)* 5600 5600 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)* 8500 8500 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)* 6500 6500 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)* 5600 5600 5637
Screening reproductiv - panel complex de 460 de gene -  PLUS, SEQ, DEL/DUP (CS0001) * 8500 8500 5774
Sindrom Aicardi-Goutieres - panel 7 gene - PLUS, SEQ, DEL/DUP (ME1201)* 5600 5600 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) - MPLA 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 Niemann-Pick tip C (gena NPC2) - secventiere* 2200 2200 3702
Sindrom QT lung (LQTS) - panel 18 gene - PLUS, SEQ, DEL/DUP (CA0301)* 5600 5600 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 2 (gena KCNJ1) - secventiere* 1250 1250 4786
Sindromul Bartter, tip 3 (gena CLCNKB) - secventiere* 4500 4500 4790
Sindromul Bartter, tip 3, 4B (gena CLCNKB) - MLPA * 2350 2350 5579
Sindromul Bartter, tip 4A  (gena BSND) - secventiere* 1250 1250 4787
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)* 5600 5600 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)* 8500 8500 5444
Sindromul deficientei cerebrale a creatininei (gena GAMT) - secventiere* 2850 2850 4769
Sindromul DiGeorge (deletia 22q11.2) - MLPA* 1500 1500 4566
Sindromul Dravet - gena SCN1A - MLPA si secventiere* 9800 9800 2653
Sindromul Dravet - gena SCN1B - secventiere* 3300 3300 2655
Sindromul Dravet - gena SCN2A - secventiere* 9800 9800 2654
Sindromul Dravet - gena SCN9A - secventiere* 9800 9800 2656
Sindromul Ehlers-Danlos - panel complex de 41 de gene - PLUS, SEQ, DEL/DUP (CA0101)* 6500 6500 5459
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A1 - MLPA* 2000 2000 2677
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A1 - secventiere* 12500 12500 2675
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A2 - secventiere* 12500 12500 2676
Sindromul Ehlers-Danlos - Tip IV (vascular) - gena COL3A1 - MLPA* 2000 2000 2679
Sindromul Ehlers-Danlos - Tip IV (vascular) - gena COL3A1 - secventiere* 12500 12500 2678
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)* 6500 6500 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)* 5600 5600 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)* 6500 6500 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 mirosului de peste - genei FMO3, secventiere* 850 850 3693
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)* 6500 6500 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)* 6500 6500 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)* 5600 5600 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 Saethre-Chotzen (gena TWIST1) - secventiere si MLPA* 3400 3400 4510
Sindromul Seckel - Tip I - analiza genei ATR - secventiere si MLPA* 14500 14500 4517
Sindromul Silver-Russell - analiza MS-MLPA (SRS)* 2600 2600 3387
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
Studiu gemeni - zigozitate* 450 450 5388
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 - mutatie familiala cunoscuta (MLPA si PCR)* 1401 1401 4793
Surditate non-sindromica/hipoacuzie - secventiere si MLPA* 4000 4000 4794
Tahicardia ventriculara cu polimorfism catecolaminergic - panel complex de 10 gene - PLUS, SEQ, DEL/DUP (CA0701)* 5600 5600 5453
Telangiectazia hemoragica ereditara - panel complex de 6 gene - PLUS, SEQ, DEL/DUP (CA0201)* 5600 5600 5460
Test de identificare ADN din diverse produse biologice* 1800 1800 3628
Test de paternitate (VATER)* 1950 1950 1435
Tetraplegie spastica (gena SPG4) - test genetic* 6500 6500 1432
TPMT (Tiopurin-S-Metiltransferazei) - genotipare - risc de toxicitate la mercaptopurina si azathioprine - Hot Spot 1000 1000 5841
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 - Glicoproteina lll a - gena ITGB3: polimorfism HPA-1a/1b (1565 C>T; L33P) (GLYKO3)* 450 450 2596
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)* 5600 5600 5481
Tulburari congenitale de glicozilare - panel 48 de gene - PLUS, SEQ, DEL/DUP (ME1901)* 6500 6500 5428
Tulburari din spectrul autist - panel 75 de gene - PLUS, SEQ, DEL/DUP (NE0101)* 6500 6500 5485
Tulburari hematologice - panel complex de 270 de gene - PLUS, SEQ, DEL/DUP (HE0101)* 8500 8500 5587
Tulburari mitocondriale - panel complex 37 gene - PLUS, SEQ, DEL/DUP (MI0101)* 6500 6500 5575
Tulburarile de deficit ale factorilor de coagulare - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (HE0501)* 5600 5600 5484
Tulburarile sistemului complement - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0701)* 6500 6500 5467
Vitamina D3 Receptor (gena VDR) - genotipare (VDR)* 600 600 4635
Vitreo-retinopatiile - panel complex de 24 de gene - PLUS, SEQ, DEL/DUP (OP0701)* 5600 5600 5469
WES PLUS - secventierea exomului uman (>3750 de gene cu implicatie clinica PLUS SEQ, CNV, DEL/DUP) (WE0301)* 9000 9000 5426

 

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