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Genetică

 

Listă analize medicale - categoria Genetică   

21-Hydroxylase deficiency (CYP21A2-gene) - ONLY MLPA deletions/duplications* 1,900.00 ID 1791
ABCB4, ABCB11 - secventiere NGS* 9,000.00 ID 4671
Acidemia glutarica tip 1 - gena GCDH secventiere * 2,500.00 ID 4733
Aciduria argininosuccinica (ASL) - Secventiere* 3,000.00 ID 4728
Acondroplazia - gena FGFR3 - secventiere exon 10 * 2,800.00 ID 1972
ADN Mitocondrial - deletii ale genomului mitocondrial pentru sindroamele Kearns-Sayer, Pearson si CPEO * 1,150.00 ID 3600
Alfa 1-antitripsina (SERPINA1) - genotipare ARMS-PCR* 450 ID 4548
Alfa 1-antitripsina (SERPINA1) - secventierea* 1,600.00 ID 4549
Alfa Thalassemie - gena HBA - MLPA* 1,950.00 ID 3367
Alfa Thalassemie - gena HBA - secventiere* 3,600.00 ID 3368
Amiotrofie spinala (gena SMN1) - secventiere* 5,200.00 ID 4535
Amiotrofie spinala (genele SMN1 si SMN 2) - MLPA* 1,300.00 ID 4536
Amiotrofie spinala tip I/II/III gena SMN 1 in lichid amniotic* 5,100.00 ID 1814
Amiotrofie spinala tip I/II/III gena SMN 1 in vilozitati coriale* 4,250.00 ID 3002
Anemia Diamond-Blackfan - panel complex de 14 de gene - PLUS, SEQ, DEL/DUP (HE0901)* 5,000.00 ID 5313
Aneuploidii in alte produse biologice (X, Y, 13, 18, 21) - QF-PCR* 600 ID 4928
Aneuploidii in lichid amniotic (X, Y, 13, 18, 21) - QF-PCR* 500 ID 3681
Aneuploidii in produs de avort (X, Y, 13, 15, 16, 18, 21, 22) - QF-PCR* 600 ID 4597
Aneuploidii in sange EDTA (X, Y, 13, 18, 21) - QF-PCR* 600 ID 4927
Aneuploidii in sperma (X, Y, 13, 18, 21) – FISH 1,400 ID 4771
Aneuploidii in sperma (X, Y, 18) – FISH 1,300 ID 5381
Aneuploidii in sperma (X, Y, 13, 15, 16, 17, 18, 21, 22) – FISH 2,900 ID 5382
Aneuploidii in sperma (X, Y, 13, 16, 18, 21, 22) – FISH 1,500 ID 5383
Aneuploidii X-Y (analiza sexului cromosomial)* 650 ID 5384
Angioedem ereditar - gena SERPING1 - secventiere* 1,000.00 ID 4960
Angioedem ereditar tip III - gena factor 12 - secventiere* 5,200.00 ID 4961
Aortopatie - panel complex de 52 de gene - PLUS, SEQ, DEL/DUP (CA1001)* 5,000.00 ID 5024
Apolipoproteina A1 si Apolipoproteina B - test genetic hiperlipidemie (gena APOA1, gena APOB)* 2,650.00 ID 3249
Apolipoproteina E genotipare* 500 ID 5273
Aritmia - panel complex de 58 de gene - PLUS, SEQ, DEL/DUP (CA1601)* 5,800.00 ID 5189
Aritmia prin cardiomiopatie de ventricul drept (ARVC) - panel complex de 21 de gene - PLUS, SEQ, DEL/DUP (CA0401)* 5,000.00 ID 5214
Ataxia - panel 157 gene - PLUS, SEQ, DEL/DUP (NE2101)* 5,800.00 ID 5039
Ataxia Friedreich (FRDA gene)* 1,500.00 ID 1764
Ataxia spinocerebelara de tip 3 (SCA3 gene)* 1,000.00 ID 4661
Atrezia gastrointestinala - panel complex de 15 gene -  PLUS, SEQ, DEL/DUP (MA2801)* 5,000.00 ID 5303
Atrichia congenitala - mutatia genei HER (hairless gene)* 18,000.00 ID 4963
Atrofie musculara spinala si bulbara (SBMA) (Boala Kennedy)-gena AR (KENNED)* 1,500.00 ID 3233
BCR/ABL - t(;22) FISH* 800 ID 4454
BCR/ABL - t(9;22) cuantificare (P190, P210), RT-PCR* 800 ID 4695
Beta Thalassemia, screening panel HBB - secventiere* 980 ID 1411
Boala Alzheimer - predispozitie genetica - gena PSEN1, secventiere* 2,200.00 ID 4674
Boala Alzheimer - predispozitie genetica - gena PSEN2, secventiere (PSEN2)* 5,600.00 ID 5296
Boala chistica renala (nefronoftizis) - screening 19 gene - secventiere * 6,800.00 ID 4673
Boala Creutzfeld Jacobs - gena prionica PRPN, PCR-secventiere* 1,900.00 ID 4825
Boala Danon (cardiomiopatie vacuolara si miopatie cu transmitere legata de X) - gena LAMP2 - secventiere* 3,500.00 ID 4884
Boala Fabry deficitul alpha-galactozidazei - etapa 1 secventierea genei GLA * 3,400.00 ID 3132
Boala Fabry deficitul alpha-galactozidazei - etapa 2 MLPA gena GLA* 2,200.00 ID 3133
Boala ficatului polichistic - panel complex de 6 gene -  PLUS, SEQ, DEL/DUP (GA0201)* 5,000.00 ID 5302
Boala granulomatoasa cronica - panel complex de 8 gene -  PLUS, SEQ, DEL/DUP (IM0601)** 5,000.00 ID 5257
Boala Hirschprung - panel complex de 15 gene -  PLUS, SEQ, DEL/DUP (MA1801)* 5,000.00 ID 5299
Boala Parkinson - panel 22 de gene - PLUS, SEQ, DEL/DUP (NE1501)* 5,000.00 ID 5036
Boala Parkinson cu debut timpuriu - panel de gene (PARK2, PARK6 (PINK1), PARK 7, PARK8 (LRRK2)) - secventiere NGS* 4,800.00 ID 4688
Boala Parkinson tip 2 - gena PARK2 - MLPA* 2,200.00 ID 5053
Boala Parkinson tip 2 - gena PARK2 - secventiere * 1,450.00 ID 5052
Boala Pompe - Boli cu stocare de glicogen (GAA) – secventiere* 8,000.00 ID 4842
Boala Pompe - Boli cu stocare de glicogen – MLPA* 1,800.00 ID 4843
Boala rinichiului polichistic - panel 10 gene - PLUS, SEQ, DEL/DUP (KI2101)* 5,000.00 ID 5047
Boala Stargardt - gena ABCA4-secventiere* 14,000.00 ID 3571
Boala Stargardt - gena CNGB3-secventiere* 9,500.00 ID 3572
Boala Stargardt - gena ELOVL4-secventiere* 6,000.00 ID 3573
Boala Tay Sachs - gena HEX-A - MLPA* 1,350.00 ID 5099
Boala Tay Sachs - gena HEX-A - secventiere si MLPA* 5,900.00 ID 5100
Boala Tay Sachs - gena HEX-A - secventiere* 4,850.00 ID 5098
Boala vonWillebrand - analiza exonului 28 - subtipurile 2A, 2B, 2M* 1,000.00 ID 3047
Boala vonWillebrand - analiza genei MLPA* 2,200.00 ID 3046
Boala vonWillebrand - secventierea genei* 9,200.00 ID 3045
Boala Waldenstorm, gena CXCR4 de rezistenta la Ibrutinib - secventiere* 500 ID 4722
Boala Wilson - analiza MLPA a genei ATP7B* 2,000.00 ID 3659
Boala Wilson - mutatia H1069Q in gena ATP7B* 450 ID 1597
Boala Wilson - secventierea genei ATP7B* 12,300.00 ID 3658
Boli hematologice si cancer ereditar - panel comprehensiv de 348 de gene -  PLUS, SEQ, DEL/DUP (HE1401)** 5,800.00 ID 5240
Boli lizozomale si mucopolizaharidoze - panel complex de 102 gene - PLUS, SEQ, DEL/DUP (ME1501)* 5,800.00 ID 5266
Boli metabolice ereditare - panel complex de 434 gene - PLUS, SEQ, DEL/DUP (ME0701)* 6,500.00 ID 5031
BRCA + 16 GENES - panel 18 gene implicate in cancerul de san, ovar, endometru* 2,700.00 ID 4466
BRCA 2 - analiza unei mutatii familiale* 1,150.00 ID 4469
BRCA1 - analiza MLPA* 950 ID 3732
BRCA1, BRCA2 - analiza MLPA* 1,600.00 ID 3734
BRCA1, BRCA2 - secventiere NGS si MLPA* 2,500.00 ID 3735
BRCA2 - analiza MLPA* 950 ID 3733
Cancerul colorectal ereditar - panel complex de 21 de gene - PLUS, SEQ, DEL/DUP (ON0201)* 5,000.00 ID 5276
Cancerul colorectal non-polipozic tip 1 (MSH2) - secventiere* 3,500.00 ID 4572
Cancerul colorectal non-polipozic tip 2 (MLH1) - secventiere* 3,500.00 ID 4571
Cancerul colorectal nonpolipozic ereditar, genele de predispozitie MLH1, MSH2, MSH6 - MLPA   * 2,500.00 ID 4781
Cancerul colorectal nonpolipozic ereditar, genele de predispozitie MSH6, EPCAM - MLPA   * 1,800.00 ID 4780
Cancerul colorectal nonpolipozic ereditar, panel de gene de predispozitie genetica (MLH1, MSH2, MSH6, PMS2) - NGS* 2,800.00 ID 4777
Cancerul pulmonar (ALK, LSI 2p23) - FISH* 1,250.00 ID 4819
Cancerul pulmonar (exoni 18-21, gena EGFR) screening - PCR* 1,000.00 ID 4818
Cardiomiopatia - panel complex de 214 gene - PLUS, SEQ, DEL/DUP (CA1601)* 5,800.00 ID 5219
Cardiomiopatia dilatativa - panel complex de 123 de gene - PLUS, SEQ, DEL/DUP (CA2201)* 5,000.00 ID 5213
Cardiomiopatia hipertrofica - panel complex de 84 de gene - PLUS, SEQ, DEL/DUP (CA1901)* 5,000.00 ID 5217
Cardiomiopatia prin non-compactare a ventriculului stang (LVNC) - panel de 32 de gene - PLUS, SEQ, DEL/DUP (CA1801)* 5,000.00 ID 5048
Cardiopatia structurala congenitala - panel complex de 114 gene - PLUS, SEQ, DEL/DUP (CA1501)* 5,000.00 ID 5226
Cariotip hematologic in maduva osoasa* 600 ID 4412
Cariotip in biopsie de produs de avort - analiza cromosomiala prin cultura de celule (CHROA)* 1,950.00 ID 5180
Cariotip in cordon ombilical (culturi limfocitare)* 700 ID 1370
Cariotip in lichid amniotic * 750 ID 1528
Cariotip in mucoasa coriala* 750 ID 2133
Cariotip in sange (culturi limfocitare)* 400 ID 4528
Cariotip postnatal molecular - array CGH (60k)* 2,000.00 ID 4419
Cariotip postnatal molecular - array CGH (750k+SNPs)* 4,200.00 ID 4646
Cariotip prenatal molecular - array CGH* 2,000.00 ID 4600
Catepsina D (gena CTSD) - secventiere* 6,900.00 ID 3598
Chorea Huntington (CHHU)* 1,450.00 ID 1624
Colestaza - panel complex de 47 de gene -  PLUS, SEQ, DEL/DUP (GA0501)* 5,800.00 ID 5300
CMV - rezistenta la terapie - genotipare (GCV, FOS, CDV, Letermovir) (CMVRE) 8,900.00 ID 5361
Deficienta GLUT 1 - MLPA* 1,950.00 ID 5209
Deficienta GLUT 1 (gena SLC2A1) - secventiere* 950 ID 4770
Deficienta lipazei acide lizozomale - boala Wolman* 3,825.00 ID 3422
Deficienta MCAD (gena ACADM) - secventiere exoni 1-10 si 12 - etapa 2* 8,550.00 ID 2339
Deficienta MCAD (gena ACADM) - secventiere Lys329Glu (=K304E) - etapa 1* 969 ID 2338
Deficit 5 alfa-reductaza tip 2 (SRD5A2), secventiere* 1,500.00 ID 4812
Deficit 5 alfa-reductaza tip 2- panel* 25,000.00 ID 4813
Deficit de biotinidaza (gena BTD) - secventiere ADN* 3,600.00 ID 3003
Deficitul de fumaraza - gena FH - transmitere AR - secventiere Sanger* 1,450.00 ID 5020
Deficitul de Glucozo-6-Fosfat-Dehidrogenaza - gena G6PD - secventiere* 1,650.00 ID 5262
Deficitul de ornitin transcarbamilaza OTC - secventiere* 1,450.00 ID 5275
Deficitul de piridoxamin-5-fosfat oxidaza (PNPO) - secventiere* 1,200.00 ID 5311
Dementa - panel complex de 58 de gene - PLUS, SEQ, DEL/DUP (NE2301)* 5,800.00 ID 5312
Detectarea si izolarea ADN uman din diverse produse* 615 ID 3123
Diabet MODY - screening MLPA pentru tipurile 1, 2, 3 si 5* 2,025.00 ID 3341
Diabet MODY - secventierea completa a genelor HNF1A si GCK, si analiza MLPA (tip 2 si 3)* 16,500.00 ID 3332
Diabet MODY tip 1 - analiza MLPA a genei HNF4A* 2,025.00 ID 3334
Diabet MODY tip 1 - secventierea genei HNF4A* 8,200.00 ID 3333
Diabet MODY tip 2 - analiza MLPA a genei GCK* 2,025.00 ID 3336
Diabet MODY tip 2 - secventierea genei GCK* 8,200.00 ID 3335
Diabet MODY tip 3 - analiza MLPA a genei HNF1A (=TCF1)* 2,025.00 ID 3338
Diabet MODY tip 3 - secventierea genei HNF1A (=TCF1)* 8,200.00 ID 3337
Diabet MODY tip 5 - analiza MLPA a genei HNF1B* 2,025.00 ID 3340
Diabet MODY tip 5 - secventierea genei HNF1B* 8,000.00 ID 3339
Diagnosticul molecular al predispozitiei la neuroblastom - gena ALK (CD246) - secventiere* 11,000.00 ID 3719
Dischinezie paroxistica kinezigenica (gena PRRT2) - secventiere* 930 ID 5085
Disgenezia gonadica - SRY, microdeletia brat scurt cromosom Y p11.3 (cariotipare si 2 teste FISH)* 2,600.00 ID 3606
Diskeratosis congenita -  panel complex de 12 gene -  PLUS, SEQ, DEL/DUP (IM0401)* 5,000.00 ID 5247
Distonie DYT5 (gena GCH1) - screening MLPA* 1,900.00 ID 3279
Distonie DYT5 (gena GCH1) - secventiere* 5,200.00 ID 3278
Distrofia miotonica de tip 1, boala Steinert - gena DMPK - TP-PCR* 1,700.00 ID 5056
Distrofia musculara Emery-Dreifuss - panel 6 gene - PLUS, SEQ, DEL/DUP (NE0301)* 5,000.00 ID 5038
Distrofia retiniana ereditara asociata mutatiilor genei RPE65 (terapie genica cu Luxturna) - secventiere Sanger * 1,600.00 ID 5093
Distrofie miotonica tip II - etapa 1 (PROMM)* 1,700.00 ID 1821
Distrofie miotonica tip II - etapa 2* 2,700.00 ID 1822
Distrofie musculara Duchenne/Becker (DMDB)* 1,700.00 ID 1644
Distrofie musculara facio-scapulo-humerala (Landouzy-Dejerine)* 2,100.00 ID 4446
Distrofie musculara si miopatie - panel complex 73 de gene (include miopatie nemalinica, distrofie musculara, Emery-Dreifuss, tulburari de colagen tip VI) - PLUS, SEQ, DEL/DUP (NE0701)* 5,800.00 ID 5027
Distrofie musculara tip Emery-Dreifuss - gena LMNA - secventiere* 6,000.00 ID 4346
EPCR (secventierea genei receptorului proteinei C)* 700 ID 3243
Epilepsie - panel complex de 416 gene - PLUS, SEQ, DEL/DUP (NE1001)* 5,800.00 ID 5034
Factor II - mutatia 20210 (FA2ZH)* 250 ID 1587
Factor Rh - zigozitate (determinarea haplotipului) - nested PCR (RFLP)* 1,300.00 ID 5083
Factor V - mutatia Cambridge (Arg306Thr)* 450 ID 4540
Factor V - mutatia H1299R (haplotip HR2)* 450 ID 1786
Factor V - mutatia Leiden (FA5ZH)* 250 ID 1450
Febra Mediteraneana Familiala (FMF), gena MEVF - secventiere* 2,800.00 ID 4541
Fenilcetonuria (PKU) - gena PAH - MLPA* 1,800.00 ID 3609
Fenilcetonuria (PKU) - gena PAH - secventiere* 7,400.00 ID 3608
Fibrilatia atriala - panel complex de 19 gene - PLUS, SEQ, DEL/DUP (CA2001)* 5,000.00 ID 5216
Fibroza chistica - gena CFTR - mutatia F508del - PCR* 600 ID 1616
Fibroza chistica - gena CFTR - secventiere completa * 3,900.00 ID 5290
Fibroza chistica - mutatia N1303K in lichid amniotic* 1,550.00 ID 1732
Fibroza chistica - screening CFTR - MLPA* 1,700.00 ID 2590
Fibroza chistica - screening CFTR in lichid amniotic pentru 36 de mutatii* 4,800.00 ID 1637
Fibroza chistica - screening CFTR in sange pentru 36 de mutatii* 600 ID 1636
Fibroza chistica - screening CFTR in sange pentru 50 de mutatii* 900 ID 4543
Fibroza hepatica congenitala - panel complex de 52 de gene -  PLUS, SEQ, DEL/DUP (GA0101)* 5,000.00 ID 5301
FIP1L1-PDGFRA - gena de fuziune FIP1-like1-Platelet-Derived-Growth-Factor-Receptor-Alpha (activitatea tirozinkinazei)* 1,300.00 ID 4912
Fosfomanomutaza 2 - gena PMM2 (tulburari congenitale de glicozilare tip 1a)* 3,200.00 ID 3641
Fragmentarea ADN - test TUNNEL in sperma (flowcytometrie) (DFI)* 250 ID 2132
Galactozemia (gena GALT) - MLPA* 1,850.00 ID 5208
Galactozemia (gena GALT) - secventiere* 2,500.00 ID 4933
Gena ABCB11 - secventiere* 8,000.00 ID 4670
Gena ABCB4 - secventiere* 8,000.00 ID 4669
Gena ACE (angiotensinconvertaza) variante del/ins* 250 ID 3276
Gena CALR (exon 9) - screening PCR* 750 ID 4814
Gena diaminoxidazei (DAO) – genotipare - PCR* 1,250.00 ID 5287
Gena EGFR - mutatia T790M în exonul 20 - RT-PCR+PNA* 1,450.00 ID 5058
Gena EGFR, exonii 18, 19, 20 si 21 - NGS* 4,000.00 ID 5059
Gena EGFR, exonii 18, 19, 20 si 21 - screening Hot Spot* 1,250.00 ID 5060
Gena EGFR, exonii 19 si 21 - screening RT-PCR+PNA* 1,700.00 ID 5057
Gena FGFR3 - secventiere* 2,750.00 ID 3723
Gena filagrinei (dermatita atopica) - cele mai frecvente mutatii* 1,575.00 ID 2922
Gena GATA 1 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere* 1,000.00 ID 5095
Gena GATA 2 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere* 1,000.00 ID 5096
Gena Glutathione-S-transferazei - polimorfism (GSTT1)* 1,400.00 ID 4642
Gena GNAS - secventiere* 4,400.00 ID 3686
Gena KCNQ2 - secventiere ADN* 8,100.00 ID 3004
Gena MEN1 - secventiere* 4,400.00 ID 3685
Gena NAGS - analiza delectiilor/duplicatiilor* 2,350.00 ID 3447
Gena NAGS - secventiere* 4,450.00 ID 3445
Gena NAT 2 (N-acetiltransferaza)* 900 ID 4949
Gena NLRP3 (cryopyrin) - sindromul inflamator autoimun indus de frig - secventiere* 8,800.00 ID 3255
Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 7* 1,000.00 ID 3704
Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 8* 1,000.00 ID 3705
Gena PAI 1 - inhibitorul activatorului de plasminogen1 (polimorfism 675 4G/5G)* 260 ID 1643
Gena PIK3CA, exonii 9 si 20 - PCR + PNA * 1,300.00 ID 5090
Gena POLG - secventiere* 8,900.00 ID 3421
Gena RELN - secventiere* 20,000.00 ID 2097
Gena RET - secventiere* 10,500.00 ID 3688
Gena RET protooncogena - MLPA* 2,500.00 ID 2199
Gena RET protooncogena - mutatia Val804Leu* 1,100.00 ID 2117
Gena RET protooncogena - secventiere exoni 10, 11, 13-16* 4,400.00 ID 2197
Gena SCN5A (gena canalelor de sodiu) - secventiere* 5,600.00 ID 4996
Gena SHOX (insuficienta haploida) - MLPA* 1,700.00 ID 4538
Gena SHOX (insuficienta haploida) - secventiere* 2,700.00 ID 4539
Gena SOD1 (superoxid dismutaza)* 2,450.00 ID 3234
Gena SOD2 (superoxid dismutaza)* 1,100.00 ID 4948
Gena STAT3 (Signal Transducer and Activator of Transcription 3) - secventiere* 9,800.00 ID 4887
Gena STAT5b (Signal Transducer and Activator of Transcription 5b) - secventiere* 9,800.00 ID 4888
Gena STK11 - secventiere* 5,800.00 ID 3687
Gena THRB a receptorului beta pentru hormoni tiroidieni - secventiere Sanger 2,300 ID 5348
Genotip KIR (killercell-immunglobulin-like-receptor-type)* 950 ID 3388
Genotipare Alpha 1 antitrypsin - allele PI* 1,000.00 ID 2943
Genotipare Alpha 1 antitrypsin - secventierea completa a genei* 4,800.00 ID 2944
Genotipare CYP1A2 (Citocrom P450 1A2) - secventiere* 1,000.00 ID 4641
Glutation-S-transferaza - genotipare PCR (izoenzime T1, M1, P1) (GSTW)* 425 ID 4428
Hemocromatoza (gena HFE) - mutatiile C282Y si H63D* 425 ID 3277
Hemocromatoza ereditara - panel complex de 5 gene - PLUS, SEQ, DEL/DUP (ME1101)* 5,000.00 ID 5322
Hemocromatoza tip 1 - gena HFE mutatiile C282Y, H63D, S65C - screening, RT-PCR* 450 ID 4551
Hemocromatoza tip 2B (HAMP) - secventiere* 1,450.00 ID 4552
Hemofilia A - analiza genetica intron 1* 650 ID 1763
Hemofilia A - analiza genetica intron 22* 450 ID 1762
Hemofilia A - analiza genetica secventiere* 4,900.00 ID 1800
Hemofilia A - factor VIII gene MLPA screening* 2,200.00 ID 1775
Hemofilia B (deficit genetic de factor IX) - secventierea genei F9* 950 ID 4739
HER2 in tumori - analiza genei prin FISH * 1,500.00 ID 4934
Heterotaxia si situs inversus - panel complex de 34 de gene - PLUS, SEQ, DEL/DUP (CA2301)* 5,800.00 ID 5227
Hiperlipidemia - panel 4 gene (APOB, LDLR, LDLRAP1, PCSK9) - PLUS, SEQ, DEL/DUP (CA1701)* 5,000.00 ID 5220
Hipertensiunea arteriala pulmonara - panel complex de 23 de gene -  PLUS, SEQ, DEL/DUP (CA0601)* 5,000.00 ID 5228
Hipoacuzie (gena-GJB2) - secventierea mutatiei 35delG* 1,650.00 ID 3433
Hipofosfatazia - gena ALPL secventiere si MLPA* 10,350.00 ID 3055
Hipofosfatemia X-linked - gena PHEX secventiere* 11,250.00 ID 3056
HLA A Alele (HLAM)* 300 ID 2724
HLA B Alele (HLBM)* 300 ID 2725
HLA B-27 (HB27M)* 235 ID 1394
HLA Cw Alele (HLCM)* 300 ID 3677
HLA DQ Alele (HLDQM)* 300 ID 3644
HLA DQ2 / HLA DQ8 - suspiciune de boala celiaca (PCR)* 470 ID 4556
HLA DR Alele (HLDRM)* 350 ID 2726
HLA tipare - HLA A, HLA B, HLA C, HLA DR, HLA DQ (BUCHLA)* 1,200.00 ID 1730
HLA-B5701 genotip sensibilitate la Abacavir - PCR* 495 ID 4574
Imunodeficienta combinata severa - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0101)* 5,800.00 ID 5246
Imunodeficienta primara - panel complex de 298 de gene - PLUS, SEQ, DEL/DUP (IM0301)* 5,800.00 ID 5251
Insuficienta ovariana prematura - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (EN0901) 5000 ID 5335
Intoleranta ereditara la fructoza (gena ALDOB) - analiza MLPA pentru deletii/duplicatii * 2,100.00 ID 2048
Intoleranta ereditara la fructoza (gena ALDOB) - secventierea* 2,500.00 ID 4562
Intoleranta la lactoza - test genetic* 275 ID 2049
K-RAS in tesut biopsie - screening secventierea exonilor 2,3,4 * 1,100.00 ID 4742
K-RAS secventierea genei in sange  * 750 ID 4741
LCHAD test genetic prenatal (secventierea genei 3-hidroxiacil CoA dehidrogenazei)* 2,500.00 ID 3706
Leucemia acuta mieloida - gena FLT3 - mutatii ITD, fragment A - cleave assay in sange integral sau maduva osoasa este * 1,400.00 ID 3691
Leucemia acuta mieloida - gena NMP1, exon 12 - cleave assay in sange integral sau maduva osoasa* 1,100.00 ID 5123
Leucodistrofie si leucoencefalopatie - panel 74 de gene - PLUS, SEQ, DEL/DUP (NE2001)* 5,800.00 ID 5028
Limfohistiocitoza hemofagocitara - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (HE1001)* 5,000.00 ID 5252
Lipofuscinoza Ceroida(CLN) - gena CTSD-secventiere* 4,500.00 ID 3639
Lipofuscinoza Ceroida(CLN) - gena PPT1-secventiere* 3,500.00 ID 3636
Lipofuscinoza Ceroida(CLN) - gena TPP1-secventiere* 5,000.00 ID 3637
Mannose-binding lectine gena MBL2 - codonii 52, 54 si 57 - secventiere (MBLMG)* 1,200.00 ID 4575
Marfan syndrome - gena FBN1 - analiza exon 24 - test in vilozitati coriale si test de contaminare cu sange matern* 3,240.00 ID 3265
Melanom - predispozitie ereditara (genai CDKN2A) - secventierea* 950 ID 4557
Melanomul ereditar si cancerul de piele ereditar -  panel complex de 19 gene - PLUS, SEQ, DEL/DUP (ON0501)* 5,000.00 ID 5277
Metabolizarea cafeinei - test genetic (CYP1A2-163A/C)* 190 ID 3280
Metilentetrahidrofolat reductaza - mutatia 677C>T si mutatia 1298A>C (MTHFR)* 290 ID 1588
Microdeletii brat lung cromosom Y (AZFa, AZFb, AZFc, DAZ) - screening, multiplex PCR* 550 ID 1533
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* 2,000.00 ID 4734
Migrena - panel complex de 47 de gene - PLUS, SEQ, DEL/DUP (NE1201)* 5,800.00 ID 5321
Migrena hemiplegica familiala - MLPA pentru deletii/duplicatii in genele CACNA1A si SCN1A* 2,250.00 ID 3596
Migrena hemiplegica familiala - secventierea genei ATP1A2 (FHM2)* 4,200.00 ID 3594
Migrena hemiplegica familiala - secventierea genei CACNA1A (FHM1)* 12,500.00 ID 3593
Migrena hemiplegica familiala - secventierea genei SCN1A (FHM3)* 8,500.00 ID 3595
Miotonia congenitala  - gena CLCN1 - MLPA* 1,100.00 ID 5054
Miotonia congenitala - gena CLCN1 - secventiere NGS* 5,500.00 ID 5170
Mucopolizaharidoze si tulburari lizozomale - panel 102 gene - PLUS, SEQ, DEL/DUP (ME1501)* 5,800.00 ID 5033
Mutatia BRAF V600E* 850 ID 2553
Mutatia c-kit D816V - Mastocitoza sistemica (CKITPC)* 1,000.00 ID 3423
Mutatia Factor Xlll - Val34Leu (FA13ZH)* 450 ID 4526
Mutatia genei ANKH* 9,000.00 ID 4907
Mutatie familiala simpla punctiforma* 1,000.00 ID 4690
Mutatii K-RAS in tumori de colon* 1,250.00 ID 4501
Mutatiile genelor STAT3 si STAT5b (Signal Transducer and Activator of Transcription) - secventiere* 12,500.00 ID 4889
MyPGx CARDIO - test complex de farmacogenetica - panel cardiologie* 2,800.00 ID 4911
MyPGx GASTRO - test complex de farmacogenetica - panel gastroenterologie* 2,800.00 ID 5113
MyPGx PSY - test complex de farmacogenetica - panel neuropsihiatrie * 2,800.00 ID 4909
MyPGx RHUMA - test complex de farmacogenetica - panel reumatologie* 2,800.00 ID 4910
MyPGx Complet - test complex de farmacogenetica – panel 33 de gene * 4,500.00 ID 4908
Neurofibromatoza -  panel complex de 9 gene - PLUS, SEQ, DEL/DUP (MA1501)* 5,000.00 ID 5278
Neurofibromatoza de tip 2 - gena NF2 - secventiere + CNV* 8,000.00 ID 5017
Neurofibromatoza tip 1 (gena NF1) - analiza MLPA pentru deletia 1500bp* 1,900.00 ID 2044
Neurofibromatoza tip 1 (gena NF1) - cariotip si test FISH pentru cele mai comune deletii/duplicatii ale genei NF1* 1,850.00 ID 3604
Neurofibromatoza tip 1 (gena NF1) - screening MLPA pentru cele mai comune deletii/duplicatii ale genei NF1* 3,700.00 ID 2045
Neurofibromatoza tip 1 (gena NF1) - secventierea genei NF1* 19,350.00 ID 2046
Neuropatia Charcot-Marie-Tooth - panel 105 de gene - PLUS, SEQ, DEL/DUP (NE1301)* 5,800.00 ID 5035
Neuropatie ereditara cu pareza indusa de presiune (HNPP) (GJB1, MPZ, PMP22, MFN2) - secventiere* 15,500.00 ID 4717
Neuropatie optica ereditara de tip Kjer (gena OPA1) - MLPA* 2,000.00 ID 3407
Neuropatie optica ereditara de tip Kjer (gena OPA1) - secventiere* 14,000.00 ID 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 * 1,700.00 ID 3404
Neutropenia congenitala - panel complex de 28 de gene -  PLUS, SEQ, DEL/DUP (IM0501)* 5,000.00 ID 5258
NIPT neoBona - Trisomiile 21, 18, 13 + sex fetal * 1,950.00 ID 3417
NIPT neoBona Advanced - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) * 2,150.00 ID 3418
NIPT Verifi Plus - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) + microdeletii* 2,650.00 ID 4604
NIPT Verifi Plus Extins - Trisomiile 21, 18, 13 + sex fetal + anomalii de cromosomi sexuali (X si Y) + microdeletii + toti cromosomii autosomali* 2,950.00 ID 4605
Obezitatea monogenica - panel complex de 41 de gene - PLUS, SEQ, DEL/DUP (KI1701) 5,800 ID 5336
Osteogenesis Imperfecta - gena COL1A1 - MLPA* 2,000.00 ID 2683
Osteogenesis Imperfecta - gena COL1A1 - secventiere* 12,500.00 ID 2682
Osteogenesis Imperfecta - gena COL1A2 - MLPA* 2,000.00 ID 2685
Osteogenesis Imperfecta - gena COL1A2 - secventiere* 12,500.00 ID 2684
Osteogenesis Imperfecta - gena CRTAP - secventiere* 4,000.00 ID 4692
Osteomalacia hipofosfatemica - test genetic FGF23, MLPA* 3,200.00 ID 2921
Osteomalacia hipofosfatemica - test genetic FGF23, secventiere* 4,300.00 ID 2920
Pancreatita acuta, cronica si cronica recurenta - panel complex de 9 gene -  PLUS, SEQ, DEL/DUP (GA0301)* 5,000.00 ID 5304
Pancreatita cronica idiopatica (N3'S - SPINK1) - screening* 650 ID 4565
Paraplegia spastica - panel complex de 75 de gene -  PLUS, SEQ, DEL/DUP (NE0501)* 5,800.00 ID 5272
Paraplegie spastica - gena ATL1/SPG3 - secventiere si analiza deletiilor/duplicatiilor* 8,775.00 ID 3053
PCA3-ARNm - scor de prognostic pentru prostata (post examen digital rectal)* 2,000.00 ID 4915
Polineuropatia Amiloida Familiala (gena TTR) - secventiere* 1,700.00 ID 4558
Polipoza adenomatoasa familiala - gena APC - MLPA* 1,200.00 ID 4991
Polipoza adenomatoasa familiala - gena APC - NGS* 2,500.00 ID 4990
Porfiria acuta intermitenta - gena HMBS - MLPA pentru deletii/duplicatii* 1,600.00 ID 2663
Porfiria acuta intermitenta - gena HMBS - o mutatie familiala* 1,200.00 ID 4929
Porfiria acuta intermitenta - gena HMBS - secventierea genei* 6,000.00 ID 4930
Rahitismul hipofosfatemic - panel complex de 13 gene - PLUS, SEQ, DEL/DUP (KI1301)* 5,000.00 ID 5259
Receptor androgen (gena AR) - secventiere si MLPA (EX12L)* 7,200.00 ID 4638
Receptorul FSH - polimorfism genetic Ser680Asn* 1,500.00 ID 4984
Retinita pigmentara cu transmitere autosomal recesiva, secventierea genei RHO* 750 ID 4686
Retinita pigmentara cu transmitere legata de X, gena RP2 - MLPA* 950 ID 4746
Retinita pigmentara cu transmitere legata de X, secventierea genei RP2* 750 ID 4687
Rett syndrome (gena MECP2) - MLPA* 1,400.00 ID 4569
Rett syndrome (gena MECP2) - secventiere si MLPA* 2,700.00 ID 4570
Scleroza laterala amiotrofica - panel 32 de gene - PLUS, SEQ, DEL/DUP (NE2201)* 5,800.00 ID 5037
Scleroza laterala amiotrofica sporadica / familiala - mutatia H46R* 1,680.00 ID 2461
Scleroza laterala amiotrofica sporadica / familiala - secventierea genei SOD1* 3,240.00 ID 2462
Sindrom Aicardi-Goutieres - panel 7 gene - PLUS, SEQ, DEL/DUP (ME1201)* 5,000.00 ID 5025
Sindrom Alagille - mutatia genei JAG1 - secventiere si MLPA* 10,200.00 ID 2918
Sindrom Alagille - mutatia genei NOTCH2 - secventiere* 13,000.00 ID 2919
Sindrom Apert - gena FGFR2 - secventiere* 7,200.00 ID 3605
Sindrom Ataxia Telangiectasia - Louis Bar - gena ATM - secventiere NGS* 7,500.00 ID 4583
Sindrom Cadasil gena NOTCH3 - secventiere completa, inclusiv CNV* 6,000.00 ID 4997
Sindrom Carney (gena PRKAR1A) - secventiere* 1,400.00 ID 3649
Sindrom Criegler-Najjar tip I/II - gena UGT1A1* 4,500.00 ID 2334
Sindrom Gilbert - gena UGT1A1 (UGT1A1)* 600 ID 1271
Sindrom Niemann-Pick tip C (gena NPC1) - secventiere* 7,500.00 ID 3701
Sindrom Niemann-Pick tip C (gena NPC2) - secventiere* 2,200.00 ID 3702
Sindrom QT lung (LQTS) - panel 16 gene - PLUS, SEQ, DEL/DUP (CA0301)* 5,000.00 ID 5026
Sindrom SLOS (Smith - Lemli - Opitz)* 3,575.00 ID 2657
Sindrom Sotos - diagnostic etapa 1 - Gena NSD1 - MLPA* 1,700.00 ID 4724
Sindrom Sotos - diagnostic etapa 2 - Gena NSD1 - secventiere * 8,800.00 ID 4725
Sindrom Sotos - Gena NSD1 - NGS * 5,000.00 ID 4723
Sindrom Von Hippel-Lindau - secventiere si MLPA* 3,825.00 ID 2740
Sindrom Wolf-Hirschhorn (culturi cromosomiale si FISH)* 2,500.00 ID 1837
Sindromul Alport - gena COL4A3 - secventiere * 5,000.00 ID 4800
Sindromul Alport - gena COL4A4 - secventiere* 5,000.00 ID 4799
Sindromul Alport - gena COL4A5 - secventiere * 5,000.00 ID 4801
Sindromul Angelman - deletii si duplicatii (15q11-13-STR) – MS-MLPA* 1,100.00 ID 5080
Sindromul Angelman (gena UBE3A) - secventiere* 4,000.00 ID 4537
Sindromul Bartter, tip 1 (gena SLC12A1) - secventiere* 4,500.00 ID 4792
Sindromul Bartter, tip 2 (gena KCNJ1) - secventiere* 1,250.00 ID 4786
Sindromul Bartter, tip 3 (gena CLCNKB) - MLPA* 1,000.00 ID 4789
Sindromul Bartter, tip 3 (gena CLCNKB) - secventiere* 4,500.00 ID 4790
Sindromul Bartter, tip 4A  (gena BSND) - secventiere* 1,250.00 ID 4787
Sindromul Bartter, tip 4B (gena CLCNKA) - secventiere* 4,500.00 ID 4788
Sindromul Bartter, tip 5 (gena CASR) - secventiere* 2,450.00 ID 4791
Sindromul Beckwith-Wiedemann - test genetic MLPA* 750 ID 2170
Sindromul Bloch–Sulzberger (Incontinentia pigmenti) - gena IKBKG - MLPA si secventiere * 6,000.00 ID 5044
Sindromul Brugada - panel complex de 7 gene - PLUS, SEQ, DEL/DUP (CA0901)* 5,000.00 ID 5222
Sindromul CCFDN (Cataracta congenitala, Dismorfism facial, Neuropatie) - test prenatal, cu controlul contaminarii * 3,900.00 ID 5200
Sindromul Charcot-Marie-Tooth tip 1A (CMT1A) (gena PMP22) - secventiere* 1,800.00 ID 4567
Sindromul Charcot-Marie-Tooth tip 1A (gena PMP22) - MLPA* 1,450.00 ID 4716
Sindromul Charcot-Marie-Tooth tip 1B (CMT1B) (gena MPZ) - secventiere* 1,800.00 ID 4568
Sindromul CHARGE - gena CHD-7* 5,500.00 ID 2154
Sindromul de insuficienta medulara - panel complex de 135 de gene -  PLUS, SEQ, DEL/DUP (HE0801)* 5,800.00 ID 5244
Sindromul deficientei cerebrale a creatininei (gena GAMT) - secventiere* 2,850.00 ID 4769
Sindromul DiGeorge (deletia 22q11.2) - MLPA* 1,500.00 ID 4566
Sindromul Dravet - gena SCN1A - MLPA si secventiere* 9,800.00 ID 2653
Sindromul Dravet - gena SCN1B - secventiere* 3,300.00 ID 2655
Sindromul Dravet - gena SCN2A - secventiere* 9,800.00 ID 2654
Sindromul Dravet - gena SCN9A - secventiere* 9,800.00 ID 2656
Sindromul Ehlers-Danlos - panel complex de 32 de gene - PLUS, SEQ, DEL/DUP (CA0101)* 5,800.00 ID 5223
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A1 - MLPA* 2,000.00 ID 2677
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A1 - secventiere* 12,500.00 ID 2675
Sindromul Ehlers-Danlos - Tip I+II (clasic) - gena COL5A2 - secventiere* 12,500.00 ID 2676
Sindromul Ehlers-Danlos - Tip IV (vascular) - gena COL3A1 - MLPA* 2,000.00 ID 2679
Sindromul Ehlers-Danlos - Tip IV (vascular) - gena COL3A1 - secventiere* 12,500.00 ID 2678
Sindromul Ehlers-Danlos - Tip VIIa+b (artrocalazia) - cei mai comuni exoni ai genelor COL1A1 si COL1A2 - MLPA* 4,000.00 ID 2681
Sindromul Ehlers-Danlos - Tip VIIa+b (artrocalazia) - cei mai comuni exoni ai genelor COL1A1 si COL1A2 - secventiere* 5,700.00 ID 2680
Sindromul Iov - Hiperimunoglobulina E - (genele DOCK8,SPINK5,STAT3) - NGS * 6,500.00 ID 4420
Sindromul Joubert - panel complex de 36 de gene - PLUS, SEQ, DEL/DUP (KI1001)* 5,000.00 ID 5253
Sindromul Lesch-Nyhan - gena HPRT1* 5,220.00 ID 2271
Sindromul Lesch-Nyhan, mutatia familiala cunoscuta, exonul 9-secventiere si PCR* 1,800.00 ID 5297
Sindromul Liddle - panel 2 gene (SCNN1B, SCNN1G) - PLUS, SEQ, DEL/DUP (CA1401)* 5,000.00 ID 5218
Sindromul Loeys-Dietz, genele TGFBR 1 si 2, secventiere NGS (LOEYS)* 15,500.00 ID 4950
Sindromul Marfan - panel complex de 34 de gene - PLUS, SEQ, DEL/DUP (CA0801)* 5,800.00 ID 5229
Sindromul MELAS - PCR-RFLP cantitativ - detectarea mutatiei m.3243G>A din gena MT-TL1 a genomului mitocondrial* 2,100.00 ID 1824
Sindromul Menkes - analiza MLPA a genei ATP7A* 1,200.00 ID 4759
Sindromul Menkes - secventierea genei ATP7A* 4,800.00 ID 4760
Sindromul MERRF - PCR-RFLP cantitativ - detectarea mutatiei m.8344A>G din gena MT-TK a genomului mitocondrial* 1,900.00 ID 1924
Sindromul mieloproliferativ cronic - gena JAK 2 exon 12 - PCR* 1,100.00 ID 4824
Sindromul mieloproliferativ cronic - gena JAK 2 mutatia V617F exon 14 - PCR* 560 ID 5288
Sindromul mirosului de peste - genei FMO3, secventiere* 850 ID 3693
Sindromul Muenke - mutatia c.749C>G (p.Pro250Arg) a genei FGFR3 - secventiere* 1,200.00 ID 4509
Sindromul NARP/Leigh - PCR-RFLP cantitativ - detectarea mutatiilor m.8993T>G si m.8993T>C din gena MT-ATP6 a genomului mitocondrial* 1,700.00 ID 3602
Sindromul nefrotic - panel complex de 81 de gene - PLUS, SEQ, DEL/DUP (KI0401)* 5,800.00 ID 5233
Sindromul Noonan - gena PTPN11 - secventiere* 3,300.00 ID 4679
Sindromul Noonan - gena RAF1 - secventiere* 3,300.00 ID 4683
Sindromul Noonan - gena RIT1 - secventiere* 760 ID 4681
Sindromul Noonan - gena SOS1 - secventiere* 3,300.00 ID 4680
Sindromul Noonan - panel complex de 35 de gene - PLUS, SEQ, DEL/DUP (CA0501)* 5,800.00 ID 5224
Sindromul Noonan – panel genele MAP2K1, PTPN11, KRAS, SOS1, RAF1, BRAF, NRAS, RIT1 – NGS* 3,700.00 ID 4684
Sindromul Prader Willi - deletii si duplicatii (15q11-13-STR) – MS-MLPA* 1,100.00 ID 5076
Sindromul Prader-Willy (PWA)* 2,600.00 ID 1673
Sindromul QT scurt - panel de 5 gene (CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1) - PLUS, SEQ, DEL/DUP (CA2101)* 5,000.00 ID 5221
Sindromul Rett atipic (gena CDKL5/STK9) - MLPA si secventiere* 9,050.00 ID 3295
Sindromul rinichiului polichistic - gena PKD1 - secventiere si MLPA * 16,000.00 ID 5062
Sindromul rinichiului polichistic - gena PKD1+PKD2 - secventiere si MLPA * 16,500.00 ID 5064
Sindromul rinichiului polichistic - gena PKD2 - secventiere si MLPA* 16,000.00 ID 5063
Sindromul Saethre-Chotzen (gena TWIST1) - secventiere si MLPA* 3,400.00 ID 4510
Sindromul Seckel - Tip I - analiza genei ATR - secventiere si MLPA* 14,500.00 ID 4517
Sindromul Silver-Russell - analiza MS-MLPA (SRS)* 2,600.00 ID 3387
Sindromul TRAPS (febra hiberniana familiala) (gena TNFRSF1) - secventiere completa* 3,000.00 ID 4547
Sindromul Williams-Beuren - gena 7q11 - analiza cromozomiala din limfocite, inclusiv test FISH (WB7Q)* 1,900.00 ID 3383
Sindromul Williams-Beuren - gena 7q11 - MLPA (WB)* 2,200.00 ID 1674
Sindromul X fragil (gena FMR1 - FRAXA) - screening, mTP-PCR* 995 ID 4544
Sindromul X fragil (gena FMR2 - FRAXE) - screening, TP-PCR* 1,400.00 ID 4545
SLOS - sindromul Smith-Lemli-Opitz - gena DHCR7 - secventiere Sanger in lichid amniotic* 1,200.00 ID 5105
Surditate ereditara / hipoacuzie (gena GJB2, MT-RNR1) - screening, secventiere * 950 ID 4560
Surditate ereditara / hipoacuzie (panel gene GJB2, GJB6, OTOF) - (NGS)* 7,400.00 ID 4561
Surditate non-sindromica / hipoacuzie - mutatie familiala cunoscuta (MLPA si PCR)* 1,400.00 ID 4793
Surditate non-sindromica/hipoacuzie - secventiere si MLPA* 4,000.00 ID 4794
Tahicardia ventriculara cu polimorfism catecolaminergic - panel complex de 10 gene - PLUS, SEQ, DEL/DUP (CA0701)* 5,000.00 ID 5215
Telangiectazia hemoragica ereditara - panel complex de 6 gene - PLUS, SEQ, DEL/DUP (CA0201)* 5,000.00 ID 5225
Test de contaminare cu sange matern* 3,800.00 ID 1682
Test de identificare ADN din diverse produse biologice* 1,800.00 ID 3628
Test de paternitate - RAPORT LEGAL (VATER)* 4,200.00 ID 2354
Test de paternitate (VATER)* 1,950.00 ID 1435
Test de zigozitate (gemeni)* 1,620.00 ID 2082
Tetraplegie spastica (gena SPG4) - test genetic* 6,500.00 ID 1432
TFE3 test FISH pentru carcinom renal cu translocatie Xp11 asociata* 1,500.00 ID 4904
TPMT (Tiopurin-S-Metiltransferazei) - genotipare (mutatiile c.238G>C, c.460G>A, c.719A>G) - risc de toxicitate la mercaptopurina si azathioprine* 1,025.00 ID 2626
Trombocitemia esentiala, sindromul mieloproliferativ cronic - mutatii in gena receptorului de trombopoietina - MPL(W515L/K) - HotSpot* 850 ID 5171
Trombofilie - beta-Fibrinogen - gena FGB (455G>A) (FGB)* 450 ID 2714
Trombofilie - Glicoproteina lll a - gena ITGB3: polimorfism HPA-1a/1b (1565 C>T; L33P) (GLYKO3)* 450 ID 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 ID 5329
Trombofilie panel I risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210, MTHFR mutatia C677T* 350 ID 3099
Trombofilie panel II risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210, MTHFR mutatiile C677T si A1298C* 425 ID 3100
Trombofilie panel III risc genetic - Factor V mutatia Leiden, Factor II mutatia 20210 300 ID 5332
Trombofilie panel IV risc genetic - Factor V mutatia Leiden, Factor II 20210, MTHFR mutatiile C677T si A1298C, PAI1 4G/5G* 650 ID 3177
Tulburari congenitale de glicozilare - panel 47 de gene - PLUS, SEQ, DEL/DUP (ME1901)* 5,800 ID 5032
Tulburari congenitale ale mono- si dizaharidelor - panel complex de 9 gene - PLUS, SEQ, DEL/DUP (ME2301) 5,800

ID 5333

Tulburarile factorilor de coagulare - panel complex de 16 gene - PLUS, SEQ, DEL/DUP (HE0501) 5000

ID 5338

Tulburari din spectrul autist - panel 75 de gene - PLUS, SEQ, DEL/DUP (NE0101)* 5,800

ID 5344

Tulburarile sistemului complement - panel complex de 80 de gene - PLUS, SEQ, DEL/DUP (IM0701)* 5,800 ID 5256
Vitamina D3 Receptor (gena VDR) - genotipare (VDR)* 600 ID 4635
Vitreo-retinopatiile - panel complex de 24 de gene - PLUS, SEQ, DEL/DUP (OP0701)* 5,000.00 ID 5267
WES PLUS - secventierea exomului uman (>3750 de gene cu implicatie clinica PLUS SEQ, CNV, DEL/DUP) (WE0301)* 7,000.00 ID 5029

 

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