Teste Diagenom

Nr.crt Cod Analiza Denumire analiza Grup Servicii
1 BM100 Hipercolesterolemia familiala - deficit receptor LDL Diagenom
2 BM101 Hipercolesterolemie tip B (deficienta familiala ligand apo-B) Diagenom
3 BM102 Pancreatita ereditara (SPINK1) Diagenom
4 BM103 Pancreatita ereditara  (PRSS1) Diagenom
5 BM104 Genotipare TPMT (toxicitate 6-mercaptopurina, azathioprin) Diagenom
6 BM105 Deficienta DPD (DPYD IVS14+1 G>A) - toxicitate 5-FU Diagenom
7 BM106 Boala Alzheimer familiala FAD1 (APP) Diagenom
8 BM107 Boala Alzheimer familiala FAD3 (PSEN1) Diagenom
9 BM108 Boala Alzheimer familiala FAD4 (PSEN2) Diagenom
10 BM109 Boala Parkinson familiala tip 1/4 (SNCA) Diagenom
11 BM110 Boala Parkinson familiala tip 2 (PARK2) Diagenom
12 BM111 Boala Parkinson familiala tip 6 (PINK1) Diagenom
13 BM112 Boala Parkinson familiala tip 7 (DJ1) Diagenom
14 BM113 Boala Parkinson familiala tip 8 (LRRK2) Diagenom
15 BM114 Boala Parkinson familiala tip 9 (ATP13A2) Diagenom
16 BM115 Boli prionice (Creutzfeldt-Jakob, Gerstmann) Diagenom
17 BM116 Atrofia musculara spinala (SMN1 - deletie exon 7) Diagenom
18 BM117 Atrofia musculara spinala (SMN1 - secventiere) Diagenom
19 BM118 Distrofia neuroaxonala infantila (mutatii PLA2G6) Diagenom
20 BM132 Coreea Huntington - testare genetica Diagenom
21 BM133 Microdeletii brat lung cromozom Y (AZFa, AZFb, AZFc) Diagenom
22 BM134 Sindrom Gilbert - testare genetica (promotor UGT1A1) Diagenom
23 BM135 Mutatii EGFR in tumori Diagenom
24 BM141 Distrofia musculara Duchenne/Becker (deletii/duplicatii MLPA) Diagenom
25 BM144 Neutropenie congenitala - mutatii ELA2 (ELANE) Diagenom
26 BM145 Neutropenie congenitala (mutatii HAX1 - sindrom Kostmann) Diagenom
27 BM146 Sindromul X fragil (testare numar repetitii CGG) Diagenom
28 BM147 Distrofie musculara a centurilor LGMD2A (gena CAPN3) Diagenom
29 BM150 Mutatia BRAF V600E in tumori Diagenom
30 BM159 Oncoproteina Her2 in tumori (imunohistochimie) Diagenom
31 BM160 Analiza amplificarii genei HER2 in tumori (CISH) Diagenom
32 BM161 Adrenoleucodistrofie X-linkata - mutatii gena ABCD1 Diagenom
33 BM178 Neoplazie endocrina multipla tip 2 - mutatia RET C634A Diagenom
34 BM179 Testare genetica -  mutatie cunoscuta Diagenom
35 BM180 Sindrom Alport - mutatii COL4A5 Diagenom
36 BM181 Gena ALK - rearanjari in tumorile pulmonare Diagenom
37 BM186 Distonie de torsiune primara DYT1 (TOR1A c.907_909 del GAG) Diagenom
38 BM187 Distonie de torsiune primara DYT1(secventiere completa TOR1A) Diagenom
39 BM66 Gena de fuziune BCR-ABL - detectie cantitativa Diagenom
40 BM67 Mutatii BRCA1 cancer ereditar san/ovar Diagenom
41 BM68 Mutatii BRCA2 cancer ereditar san/ovar Diagenom
42 BM69 Cancer colorectal non-polipozic ereditar tip 1 - mutatii MSH2 Diagenom
43 BM70 Cancer colorectal non-polipozic ereditar tip 2 - mutatii MLH1 Diagenom
44 BM71 Cancer colorectal non-polipozic ereditar tip 4 - mutatii PMS2 Diagenom
45 BM72 Cancer colorectal non-polipozic ereditar tip 5 - mutatii MSH6 Diagenom
46 BM73 Polipoza adenomatoasa familiala - mutatie APC Diagenom
47 BM74 Mutatia JAK2 Diagenom
48 BM75 Mastocitoza sistemica - mutatia c-kit D816V Diagenom
49 BM76 Beta-talasemie - testare genetica (HBB) Diagenom
50 BM77 Alfa-talasemie - testare genetica (HBA1) Diagenom
51 BM78 Delta-beta talasemie - testare genetica (inclusiv HPFH) Diagenom
52 BM79 Hemoglobinopatie Lepore - testare genetica Diagenom
53 BM80 Sindrom adrenogenital (deficit 21-hidroxilaza) - mutatii CYP21A2 Diagenom
54 BM81 Boala Gaucher - mutatii GBA Diagenom
55 BM82 Fibroza chistica - 25 mutatii CFTR (screening) Diagenom
56 BM83 Fibroza chistica - panel extins (secventiere completa CFTR) Diagenom
57 BM84 Galactozemie - mutatii GALT Diagenom
58 BM85 Hemofilia A - analiza inversii IVS1 si IVS22 Diagenom
59 BM86 Hemofilia A - panel extins Diagenom
60 BM87 Cancer de prostata - mutatii ELAC2, RNASEL, BRCA2, SRD5A2 Diagenom
61 BM88 Cancer gastric ereditar difuz - mutatii CDH1 Diagenom
62 BM89 Neoplazie endocrina multipla tip 1 - mutatii MEN1 Diagenom
63 BM90 Neoplazie endocrina multipla tip 2 - RET: 10, 11, 13, 14, 15, 16 Diagenom
64 BM91 Neoplazie endocrina multipla tip 2 - panel RET complet Diagenom
65 BM92 Mutatii KRAS in tumori Diagenom
66 BM93 Boala von Willebrand tip 1 si 3 - testare genetica Diagenom
67 BM94 Boala von Willebrand tip 2A - exon 28 Diagenom
68 BM95 Boala von Willebrand tip 2A - exoni 11-16, 26, 51, 52 Diagenom
69 BM96 Boala von Willebrand tip 2B, 2M - exon 28 Diagenom
70 BM97 Boala von Willebrand tip 2N - exoni 18-20 Diagenom
71 BM98 Boala von Willebrand tip 2N - exoni 17, 24-27 Diagenom
72 BM99 Hemofilia B - testare genetica Diagenom
73 CITOGEN2 Analiza cromozomiala (cariotip) in lichid amniotic Diagenom
74 TBP Taxa bloc parafina Diagenom

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