+40241 660 336

NPA Laborator Analize Medicale Constanta

  • NPA Laborator Analize Medicale Constanta


    Departamente

    CYP21A2A
    21-Hydroxylase deficiency (CYP21A2-gene) - ONLY MLPA deletions/duplications*
    AB4/11
    ABCB4, ABCB11 - secventiere NGS*
    GCDH
    Acidemia glutarica tip 1 - gena GCDH secventiere *
    ASLNGS
    Aciduria argininosuccinica (ASL) - Secventiere*
    5835
    Acondroplazia - gena FGFR3 - secventiere exon 10 *
    3600
    ADN Mitocondrial - deletii ale genomului mitocondrial pentru sindroamele Kearns-Sayer, Pearson si CPEO *
    SERPINA1
    Alfa 1-antitripsina (SERPINA1) - genotipare ARMS-PCR*
    SERP1NGS
    Alfa 1-antitripsina (SERPINA1) - secventierea*
    ATHAL
    Alfa Thalassemie - gena HBA - MLPA*
    ATHNGS
    Alfa Thalassemie - gena HBA - secventiere*
    SMN1
    Amiotrofie spinala (gena SMN1) - secventiere*
    SMN1+2
    Amiotrofie spinala (genele SMN1 si SMN 2) - MLPA*
    4928
    Aneuploidii in alte produse biologice (X, Y, 13, 18, 21) - QF-PCR*
    4927
    Aneuploidii in sange EDTA (X, Y, 13, 18, 21) - QF-PCR*
    3273
    Aneuploidii X-Y (analiza sexului cromosomial)*
    4960
    Angioedem ereditar - gena SERPING1 - secventiere*
    4961
    Angioedem ereditar tip III - gena factor 12 - secventiere*
    5024
    Aortopatie - panel complex de 53 de gene - PLUS, SEQ, DEL/DUP (CA1001)
    1345
    Apo E4 - Apolipoproteina E genotipare (APOEZH)*
    3249
    Apolipoproteina A1 si Apolipoproteina B - test genetic hiperlipidemie (gena APOA1, gena APOB)*
    5189
    Aritmia - panel complex de 58 de gene - PLUS, SEQ, DEL/DUP (CA1601)*
    5435
    Ataxia - panel 257 gene - PLUS, SEQ, DEL/DUP (NE2101)*
    1764
    Ataxia Friedreich (FRDA gene)*
    4661
    Ataxia spinocerebelara de tip 3 (SCA3 gene)*
    4963
    Atrichia congenitala - mutatia genei HER (hairless gene)*
    3233
    Atrofie musculara spinala si bulbara (SBMA) (Boala Kennedy)-gena AR (KENNED)*
    4454
    BCR/ABL - t(;22) FISH*
    4695
    BCR/ABL - t(9;22) cuantificare (P190, P210), RT-PCR*
    5511
    Beta Thalassemia, screening panel HBB - Hot Spot*
    4674
    Boala Alzheimer - predispozitie genetica - gena PSEN1, secventiere*
    4677
    Boala Alzheimer - predispozitie genetica - gena PSEN2, secventiere (PSEN2)*
    4673
    Boala chistica renala (nefronoftizis) - screening 19 gene - secventiere *
    4825
    Boala Creutzfeld Jacobs - gena prionica PRPN, PCR-secventiere*
    4884
    Boala Danon (cardiomiopatie vacuolara si miopatie cu transmitere legata de X) - gena LAMP2 - secventiere*
    3132
    Boala Fabry deficitul alpha-galactozidazei - etapa 1 secventierea genei GLA *
    3133
    Boala Fabry deficitul alpha-galactozidazei - etapa 2 MLPA gena GLA*
    5257
    Boala granulomatoasa cronica - panel complex de 8 gene - PLUS, SEQ, DEL/DUP (IM0601)**
    4688
    Boala Parkinson cu debut timpuriu - panel de gene (PARK2, PARK6 (PINK1), PARK 7, PARK8 (LRRK2)) - secventiere NGS*
    5053
    Boala Parkinson tip 2 - gena PARK2 - MLPA*
    5052
    Boala Parkinson tip 2 - gena PARK2 - secventiere *
    4842
    Boala Pompe - Boli cu stocare de glicogen (GAA)
    4843
    Boala Pompe - Boli cu stocare de glicogen – MLPA
    5047
    Boala rinichiului polichistic - panel 10 gene - PLUS, SEQ, DEL/DUP (KI2101)*
    3571
    Boala Stargardt - gena ABCA4-secventiere*
    3572
    Boala Stargardt - gena CNGB3-secventiere*
    3573
    Boala Stargardt - gena ELOVL4-secventiere*
    5099
    Boala Tay Sachs - gena HEX-A - MLPA*
    5100
    Boala Tay Sachs - gena HEX-A - secventiere si MLPA*
    5098
    Boala Tay Sachs - gena HEX-A - secventiere*
    3047
    Boala vonWillebrand - analiza exonului 28 - subtipurile 2A, 2B, 2M*
    3046
    Boala vonWillebrand - analiza genei MLPA*
    3045
    Boala vonWillebrand - secventierea genei*
    4722
    Boala Waldenstorm, gena CXCR4 de rezistenta la Ibrutinib - secventiere*
    3659
    Boala Wilson - analiza MLPA a genei ATP7B*
    1597
    Boala Wilson - mutatia H1069Q in gena ATP7B*
    3658
    Boala Wilson - secventierea genei ATP7B*
    5240
    Boli hematologice si cancer ereditar - panel comprehensiv de 348 de gene - PLUS, SEQ, DEL/DUP (HE1401)**
    5427
    Boli metabolice ereditare - panel complex de 505 gene - PLUS, SEQ, DEL/DUP (ME0701)
    4466
    BRCA + 16 GENES - panel 18 gene implicate in cancerul de san, ovar, endometru*
    4469
    BRCA 2 - analiza unei mutatii familiale*
    3732
    BRCA1 - analiza MLPA*
    3734
    BRCA1, BRCA2 - analiza MLPA*
    3735
    BRCA1, BRCA2 - secventiere NGS si MLPA*
    3733
    BRCA2 - analiza MLPA*
    4572
    Cancerul colorectal non-polipozic tip 1 (MSH2) - secventiere*
    4571
    Cancerul colorectal non-polipozic tip 2 (MLH1) - secventiere*
    4780
    Cancerul colorectal nonpolipozic ereditar, genele de predispozitie MSH6, EPCAM - MLPA *
    4777
    Cancerul colorectal nonpolipozic ereditar, panel de gene de predispozitie genetica (MLH1, MSH2, MSH6, PMS2) - NGS*
    5457
    Cardiomiopatia - panel complex de 217 gene - PLUS, SEQ, DEL/DUP (CA1201)*
    5436
    Cardiomiopatia dilatativa - panel complex de 130 de gene - PLUS, SEQ, DEL/DUP (CA2201)
    5455
    Cardiomiopatia hipertrofica - panel complex de 92 de gene - PLUS, SEQ, DEL/DUP (CA1901)*
    5048
    Cardiomiopatia prin non-compactare a ventriculului stang (LVNC) - panel de 32 de gene - PLUS, SEQ, DEL/DUP (CA1801)*
    5441
    Cardiopatia structurala congenitala - panel complex de 125 gene - PLUS, SEQ, DEL/DUP (CA1501)
    4412
    Cariotip hematologic in maduva osoasa*
    5180
    Cariotip in biopsie de produs de avort - analiza cromosomiala prin cultura de celule (CHROA)*
    1370
    Cariotip in cordon ombilical (culturi limfocitare)*
    2133
    Cariotip in mucoasa coriala*
    4528
    Cariotip in sange (culturi limfocitare)*
    4419
    Cariotip postnatal molecular - array CGH (60k)*
    4646
    Cariotip postnatal molecular - array CGH (750k+SNPs)*
    4600
    Cariotip prenatal molecular - array CGH*
    3598
    Catepsina D (gena CTSD) - secventiere*
    1624
    Chorea Huntington (CHHU)*
    5209
    Deficienta GLUT 1 - MLPA*
    4770
    Deficienta GLUT 1 (gena SLC2A1) - secventiere*
    3422
    Deficienta lipazei acide lizozomale - boala Wolman*
    2339
    Deficienta MCAD (gena ACADM) - secventiere exoni 1-10 si 12 - etapa 2*
    2338
    Deficienta MCAD (gena ACADM) - secventiere Lys329Glu (=K304E) - etapa 1*
    4812
    Deficit 5 alfa-reductaza tip 2 (SRD5A2), secventiere*
    4813
    Deficit 5 alfa-reductaza tip 2- panel*
    3003
    Deficit de biotinidaza (gena BTD) - secventiere ADN*
    5020
    Deficitul de fumaraza - gena FH - transmitere AR - secventiere Sanger*
    3123
    Detectarea si izolarea ADN uman din diverse produse*
    3341
    Diabet MODY - screening MLPA pentru tipurile 1, 2, 3 si 5*
    3332
    Diabet MODY - secventierea completa a genelor HNF1A si GCK, si analiza MLPA (tip 2 si 3)*
    3334
    Diabet MODY tip 1 - analiza MLPA a genei HNF4A*
    3333
    Diabet MODY tip 1 - secventierea genei HNF4A*
    3336
    Diabet MODY tip 2 analiza MLPA a genei GCK
    3335
    Diabet MODY tip 2 - secventierea genei GCK*
    3338
    Diabet MODY tip 3 analiza MLPA a genei HNF1A
    3337
    Diabet MODY tip 3 - secventierea genei HNF1A
    3340
    Diabet MODY tip 5 - analiza MLPA a genei HNF1B*
    3339
    Diabet MODY tip 5 - secventierea genei HNF1B*
    3719
    Diagnosticul molecular al predispozitiei la neuroblastom - gena ALK (CD246) - secventiere*
    5085
    Dischinezie paroxistica kinezigenica (gena PRRT2) - secventiere*
    3606
    Disgenezia gonadica - SRY, microdeletia brat scurt cromosom Y p11.3 (cariotipare si 2 teste FISH)
    5247
    Diskeratosis congenita - panel complex de 15 gene - PLUS, SEQ, DEL/DUP (IM0401)
    3279
    Distonie DYT5 (gena GCH1) - screening MLPA*
    3278
    Distonie DYT5 (gena GCH1) - secventiere*
    5038
    Distrofia musculara Emery-Dreifuss - panel 6 gene - PLUS, SEQ, DEL/DUP (NE0301)*
    5093
    Distrofia retiniana ereditara asociata mutatiilor genei RPE65 (terapie genica cu Luxturna) - secventiere Sanger *
    1821
    Distrofie miotonica tip II - etapa 1 (PROMM)*
    1822
    Distrofie miotonica tip II - etapa 2*
    1644
    Distrofie musculara Duchenne/Becker (DMDB)*
    4446
    Distrofie musculara facio-scapulo-humerala (Landouzy-Dejerine)*
    5424
    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)*
    4346
    Distrofie musculara tip Emery-Dreifuss - gena LMNA - secventiere*
    3243
    EPCR (secventierea genei receptorului proteinei C)*
    5430
    Epilepsie - panel complex de 511 de gene - PLUS, SEQ, DEL/DUP (NE1001)*
    1587
    Factor II - mutatia 20210 (FA2ZH)*
    5083
    Factor Rh - zigozitate (determinarea haplotipului) - nested PCR (RFLP)*
    4540
    Factor V - mutatia Cambridge (Arg306Thr)*
    1786
    Factor V - mutatia H1299R (haplotip HR2)*
    1450
    Factor V - mutatia Leiden
    4541
    Febra Mediteraneana Familiala (FMF), gena MEVF - secventiere*
    3609
    Fenilcetonuria (PKU) - gena PAH - MLPA*
    3608
    Fenilcetonuria (PKU) - gena PAH - secventiere*
    5216
    Fibrilatia atriala - panel complex de 19 gene - PLUS, SEQ, DEL/DUP (CA2001)*
    1616
    Fibroza chistica - gena CFTR - mutatia F508del - PCR*
    5842
    Fibroza chistica - gena CFTR - secventiere completa*
    2590
    Fibroza chistica - screening CFTR - MLPA*
    1636
    Fibroza chistica - screening CFTR in sange pentru 36 de mutatii*
    4543
    Fibroza chistica - screening CFTR in sange pentru 50 de mutatii*
    4912
    FIP1L1-PDGFRA - gena de fuziune FIP1-like1-Platelet-Derived-Growth-Factor-Receptor-Alpha (activitatea tirozinkinazei)*
    3641
    Fosfomanomutaza 2 - gena PMM2 (tulburari congenitale de glicozilare tip 1a)*
    5897
    Fragmentarea ADN - test TUNNEL in sperma congelata - index cu numaratoare (DFIS)
    5208
    Galactozemia (gena GALT) - MLPA*
    4933
    Galactozemia (gena GALT) - secventiere*
    4670
    Gena ABCB11 - secventiere*
    4669
    Gena ABCB4 - secventiere*
    3276
    Gena ACE (angiotensinconvertaza) variante del/ins*
    4814
    Gena CALR (exon 9) - screening PCR*
    5058
    Gena EGFR - mutatia T790M în exonul 20 - RT-PCR+PNA
    5059
    Gena EGFR, exonii 18, 19, 20 si 21 - NGS*
    5057
    Gena EGFR, exonii 19 si 21 - screening RT-PCR+PNA*
    2922
    Gena filagrinei (dermatita atopica) - cele mai frecvente mutatii*
    5095
    Gena GATA 1 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere*
    5095
    Gena GATA 2 - dezvoltarea si proliferarea liniilor hematopoietice - secventiere*
    4642
    Gena Glutathione-S-transferazei - polimorfism (GSTT1)*
    3686
    Gena GNAS - secventiere*
    3004
    Gena KCNQ2 - secventiere ADN*
    4575
    Gena MBL2 - analiza mutatiei in codonii 52, 57, 57 si regiunea regulatorie - secventiere (MBLMG)*
    5717
    Gena MEN1 - secventiere Sanger
    3447
    Gena NAGS - analiza delectiilor/duplicatiilor*
    3445
    Gena NAGS - secventiere*
    5505
    Gena NAT 2 (N-acetiltransferaza)*
    3255
    Gena NLRP3 (cryopyrin) - sindromul inflamator autoimun indus de frig - secventiere*
    3704
    Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 7*
    3705
    Gena PAH (gena fenilalanin-hidroxilazei), analiza mutatiei in Exon 8*
    1643
    Gena PAI 1 - inhibitorul activatorului de plasminogen1 (polimorfism 675 4G/5G)*
    5090
    Gena PIK3CA, exonii 10 si 21 - PCR +PNA *
    3421
    Gena POLG - secventiere*
    2099
    Gena RELN - secventiere*
    3688
    Gena RET - secventiere*
    2199
    Gena RET protooncogena - MLPA*
    2117
    Gena RET protooncogena - mutatia Val804Leu*
    2178
    Gena RET protooncogena - secventiere exoni 10, 11, 13-16*
    4996
    Gena SCN5A (gena canalelor de sodiu) - secventiere*
    4538
    Gena SHOX (insuficienta haploida) - MLPA*
    4539
    Gena SHOX (insuficienta haploida) - secventiere*
    3234
    Gena SOD1 (superoxid dismutaza)*
    4948
    Gena SOD2 (superoxid dismutaza)*
    4887
    Gena STAT3 (Signal Transducer and Activator of Transcription 3) - secventiere*
    4888
    Gena STAT5b (Signal Transducer and Activator of Transcription 5b) - secventiere*
    3687
    Gena STK11 - secventiere*
    3388
    Genotip KIR (killercell-immunglobulin-like-receptor-type)*
    2943
    Genotipare Alpha 1 antitrypsin - allele PI*
    2944
    Genotipare Alpha 1 antitrypsin - secventierea completa a genei*
    4641
    Genotipare CYP1A2 (Citocrom P450 1A2) - secventiere*
    4428
    Glutation-S-transferaza - fenotipare PCR (izoenzime T1, M1, P1) (GSTW)*
    3277
    Hemocromatoza (gena HFE) - mutatiile C282Y si H63D*
    4551
    Hemocromatoza tip 1 - gena HFE mutatiile C282Y, H63D, S65C - screening, RT-PCR*
    4552
    Hemocromatoza tip 2B (HAMP) - secventiere*
    1763
    Hemofilia A - analiza genetica intron 1*
    1762
    Hemofilia A - analiza genetica intron 22*
    1800
    Hemofilia A - analiza genetica secventiere*
    1775
    Hemofilia A - factor VIII gene MLPA screening*
    4739
    Hemofilia B (deficit genetic de factor IX) - secventierea genei F9*
    5227
    Heterotaxia si situs inversus - panel complex de 34 de gene - PLUS, SEQ, DEL/DUP (CA2301)*
    5220
    Hiperlipidemia - panel 4 gene (APOB, LDLR, LDLRAP1, PCSK9) - PLUS, SEQ, DEL/DUP (CA1701)*
    5228
    Hipertensiunea arteriala pulmonara - panel complex de 23 de gene - PLUS, SEQ, DEL/DUP (CA0601)*
    3433
    Hipoacuzie (gena-GJB2) - secventierea mutatiei 35delG*
    3055
    Hipofosfatazia - gena ALPL secventiere si MLPA*
    3056
    Hipofosfatemia X-linked - gena PHEX secventiere*
    2724
    HLA A Alele (HLAM)*
    2725
    HLA B Alele (HLBM)*
    1394
    HLA B-27 (HB27M)
    3677
    HLA Cw Alele (HLCM)*
    3644
    HLA DQ Alele (HLDQM)*
    4556
    Predispozitie genetica boala celiaca-HLA DQ2 / HLA DQ8

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