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 |