office@personalgenetics.ro
23 decembrie 2014 termen limita primire probe testare:
| DLG01 | ALK 4 EML-FISH |
| ASP01 | Cancer ereditar colorectal nonpolipozic/Sindrom Lynch (secventiere MLH1) |
| ASP02 | Cancer ereditar colorectal nonpolipozic/Sindrom Lynch (secventiere MSH2) |
| NIM01 | Determinarea riscului de cancer ereditar de san si ovar ( SECVENTIERE NG a genelor BRCA1 SI 2; determinare deletii/duplicatiiin genele BRCA1, BRCA2, PALB2,CDH1, TP53, CHEK2,PTEN) |
| ASP14 | Determinarea riscului de cancer ereditar de san si ovar (APEX: BRCA1/2, RAD51, NBN, CHEK2,) |
| ASP18 | FAP (APC) – Polipoza adenomatoasa familiala (secventiere) |
| ASP19 | HNPCC/ Lynch Syndrome (secventiere MSH2, MLH1) |
| ASP20 | Instabilitate microsatelitara (MSI) in cancerul de colon |
| ASP07 | MUTYH-Polipoza asociata (RFLP) |
| ASP06 | MUTYH-Polipoza asociata (secventiere) |
| BSV04 | Pancreatita ereditara (PRSS1) |
| BSV03 | Pancreatita ereditara (SPINK1) |
| IMU80 | Anticardiolipinici IgG |
| IMU81 | Anticardiolipinici IgM |
| HEM15 | Anticoagulant lupic |
| IMU86 | Anticorpi anti-beta2 glicoproteina 1 IgA, IgM, IgG |
| HEM14 | Antitrombina III |
| ASP10 | Beta-talasemie (APEX 69 mutatii) |
| BSV105 | Test imunofenotipare limfocitara -profil autoimun |
| IMF03 | Test imunofenotipare limfocitara -identificare HLA B27 |
| IMF04 | Test imunofenotipare limfocitara limfocitoze, screening limfoproliferari |
| IMF05 | Test imunofenotipare limfocitara limfoproliferari cronice |
| IMF06 | Markeri de prognostic in leucemia limfocitara cronica (CD38, ZAP-70) |
| IMF07 | Test imunofenotipare leucocitara si eritrocitara pentru identificarea clonei HPN (hemoglobinurie paroxistica nocturna) |
| IMF08 | Teste imunofenotipare leucocitara pentru suspiciunea de leucemie acuta |
| NIM04 | Cariotip Molecular Postnatal (tehnica aCGH-60K) |
| NIM05 | Cariotip Molecular Postnatal (tehnica aCGH-180K) |
| ASP09 | Detectia mutatiilor in genele GJB2, GJB6, GJB3, MT-RNR1, MT-TS1, SLC26A5, SLC26A4, KCNQ4,TMC1, MYO15A, MYO7A asociate surditatii non-sindromice (APEX) |
| ASP11 | Detectia mutatiilor ATP7B in boala Wilson (APEX: 97 mutatii) |
| ASP12 | Detectia mutatiilor genetice asociate fibrozei chistice (APEX: CFTR) |
| BIB 01 | Detectia si cuantificarea ADN-HBV (virusul hepatitei B) |
| BIB 02 | Detectia si cuantificarea ARN-HCV (virusul hepatitei C) |
| NIM02 | Cariotip molecular prenatal din lichid amniotic (tehnica arrayCGH) |
| NIM03 | Cariotip molecular prenatal din vilozitati coriale (tehnica arrayCGH) |
| ASP26 | Diagnostic prenatal amiotrofie spinala – gena SMN1 (vilozitati coriale/ lichid amniotic – APEX) |
| ASP28 | Diagnostic prenatal beta-talasemie – gena HBB (vilozitati coriale/ lichid amniotic – APEX) |
| ASP30 | Diagnostic prenatal boala Wilson – gena ATP7B (vilozitati coriale/ lichid amniotic – APEX) |
| ASP29 | Diagnostic prenatal fibroza chistica – gena CFTR (vilozitati coriale/ lichid amniotic – APEX) |
| CIT 18.0 | PrenaTest Basic (Detectarea noninvaziva a trisomiei fetale 21) |
| CIT18 | PrenaTest Optimum (Detectarea noninvaziva a trisomiilor fetale 21, 18 si 13) |
| CIT18.1 | PrenaTest Plus (Detectarea noninvaziva a trisomiilor fetale 21, 18, 13 si aneuploidiilor cromozomilor sexuali) |
| CIT11 | Analiza rapida cromozomii 13, 18, 21, X si Y – FISH |
| CIT7 | Identificarea aberatiilor cromozomiale de structura prin tehnica FISH |