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 |