Sıra No. | Test İsmi | Gen/Bölge | Endikasyon | Analiz Yöntemi | Örnek Tipi | Miktar (min) | Rapor Tarihi (gün) |
---|---|---|---|---|---|---|---|
1 | KROMOZOM ANALİZİ - KAN | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE | HÜCRE KÜLTÜRÜ | PERİFERİK KAN (HEPARİNLİ) | 2-3 ML | 15 |
2 | KROMOZOM ANALİZİ - AMNİYON SIVISI | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | AMNİYON SIVISI | 15-20ML | 21 |
3 | KROMOZOM ANALİZİ - CVS | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORYONİK VİLLUS | 2-3 ADET VİLLUS (2-3MG) | 21 |
4 | KROMOZOM ANALİZİ - KORD | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORD KANI (HEPARİNLİ) | 2-3ML | 7 |
5 | KROMOZOM ANALİZİ - ABORTUS | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • TEKRARLAYAN GEBELİK KAYIPLARI | HÜCRE KÜLTÜRÜ | ABORTUS MATERYALİ | 30-50ΜG | 21 |
6 | KROMOZOM ANALİZİ - CİLT DOKUSU | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE | HÜCRE KÜLTÜRÜ | CİLT DOKUSU | 30-50ΜG | 21 |
7 | KROMOZOM ANALİZİ + HIZLI FISH - AMNİYON SIVISI | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | AMNİYON SIVISI | 15-20ML | 2 + 21 |
8 | KROMOZOM ANALİZİ + HIZLI FISH - CVS | 24 KROMOZOM | • KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORYONİK VİLLUS | 2-3MG | 2 + 21 |
9 | MOLEKÜLER GENETİK - MOLEKÜLER KARYOTİPLEME | 24 Kromozom | İNFERTİLİTE DÜŞÜK TEKRARLI DÜŞÜK TANIMLANAMAMIŞ GENETİK HASTALIK MULTİPLE KONJENİTAL ANOMALİ | ACGH | EDTA'LI KAN /AS/CVS/ABORT | 2-3ML/5-20ML/2-3MG | 15 |
10 | SRD5A2 GENİ MUTASYON ANALİZİ | SRD5A2 (TÜM GEN) | • 5Α-REDÜKTAZ EKSİKLİĞİ TİP 2 | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
11 | ADA GENİ MUTASYON ANALİZİ | ADA (TÜM GEN) | • ADENOZİN DEAMİNAZ EKSİKLİĞİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
12 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 9,10,13,15) | • AKONDROPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
13 | HBA1 & HBA2 GENİ MUTASYON ANALİZİ | HBA1, HBA2 | • ALFA TALASEMİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
14 | SOD1 GENİ MUTASYON ANALİZİ | SOD1 (TÜM GEN) | • AMYOTROFİK LATERAL SKLEROZİS (ALS) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
15 | HBB GENİ MUTASYON ANALİZİ | HBB (TÜM GEN) | • BETA TALASEMİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
16 | RPS19 GENİ MUTASYON ANALİZİ | RPS19 (TÜM GEN) | • BLACKFAN-DIAMOND ANEMİSİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
17 | NOTCH3 GENİ MUTASYON ANALİZİ | NOTCH3 (EKZON 3,4) | • CADASIL | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
18 | NOTCH3 GENİ MUTASYON ANALİZİ | NOTCH3 (EKZON 3,4,11,18,19) | • CADASIL | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 30 |
19 | ASPA GENİ MUTASYON ANALİZİ | ASPA (TÜM GEN) | • CANAVAN | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
20 | MPZ GENİ MUTASYON ANALİZİ | MPZ (TÜM GEN) | • CHARCOT-MARİE-TOOTH | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
21 | PMP22 GENİ MUTASYON ANALİZİ | PMP22 (TÜM GEN) | • CHARCOT-MARİE-TOOTH 1A (CMT1A) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
22 | PMP22 GENİ DUPLİKASYON ANALİZİ | PMP22 | • CHARCOT-MARİE-TOOTH (CMT1A) | FRAGMAN ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
23 | CRLF1 GENİ MUTASYON ANALİZİ | CRLF1 (TÜM GEN) | • COLD-INDUCED SWEATİNG SENDROMU TİP 1 | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
24 | TOR1A1 GENİ GAG DELESYON ANALİZİ | TOR1A1 | • DİSTONİA (DYT1) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
25 | DİSTROFİN GENİ MUTASYON ANALİZİ | DİSTROFİN (79 EKZON) | • DMD/BMD | MLPA | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
26 | TÜM EKZOM SEKANSLAMA (WES) | TÜM EKZOM | • EKZOM SEKANSLAMA | NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 60 |
27 | GLA GENİ MUTASYON ANALİZİ | GLA (TÜM GEN) | • FABRY HASTALIĞI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
28 | HAE GENİ MUTASYON ANALİZİ | HAE | • FAKTÖR XII | ? | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
29 | PKU GENİ MUTASYON ANALİZİ | PKU (TÜM GEN) | • FENİLKETONÜRİ HASTALIĞI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
30 | FMF MUTASYON ANALİZİ | MEFV | • AİLESEL AKDENİZ ATEŞİ | DİZİ ANALİZİ NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
31 | FMR1 GENİ CGG TEKRAR ANALİZİ | FMR1 | • FRAJİL X | FRAGMAN ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
32 | G6PD GENİ MUTASYON ANALİZİ | G6PD (TÜM GEN) | • G6PD EKSİKLİĞİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
33 | GALK1 GENİ MUTASYON ANALİZİ | GALK1 (TÜM GEN) | • GALAKTOKİNAZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
34 | GALT GENİ MUTASYON ANALİZİ | GALT (TÜM GEN) | • GALAKTOZEMİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
35 | RAB27A GENİ MUTASYON ANALİZİ | RAB27A (TÜM GEN) | • GRİSCELLİ SENDROMU TİP 2 | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
36 | G6PC GENİ MUTASYON ANALİZİ | G6PC (TÜM GEN) | • GSD TİP1A (VON GİERKE) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
37 | SLC37A4 GENİ MUTASYON ANALİZİ | SLC37A4 (TÜM GEN) | • GSD TİP1B/1C | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
38 | F9 GENİ MUTASYON ANALİZİ | F9 (TÜM GEN) | • HEMOFİLİ B HASTALIĞI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
39 | HFE GENİ MUTASYON ANALİZİ | HFE (H63D VE C282Y) | • HEMOKROMATOZİS | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
40 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 10) | • HİPOKONDROPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
41 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 9,10,13,15) | • HİPOKONDROPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
42 | GATA3 GENİ MUTASYON ANALİZİ | GATA3 (TÜM GEN) | • HİPOPARATİROİDİZM-SAĞIRLIK-RENAL DİSPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
43 | IDUA GENİ MUTASYON ANALİZİ | IDUA (TÜM GEN) | • HUNTER SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
44 | IDS GENİ MUTASYON ANALİZİ | IDS (TÜM GEN) | • HURLER SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
45 | GATA3 GENİ MUTASYON ANALİZİ | GATA3 (TÜM GEN) | • HDR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
46 | MEK1 GENİ MUTASYON ANALİZİ | MEK1 (EKZON 2,3) | • KARDİYOFASYOKUTANÖZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
47 | MEK2 GENİ MUTASYON ANALİZİ | MEK2 (EKZON 1, 2, 3) | • KARDİYOFASYOKUTANÖZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
48 | CFTR GENİ MUTASYON ANALİZİ | CFTR | • KİSTİK FİBROZ | • NGS • FRAGMAN ANALİZİ • DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
49 | CHRNE GENİ MUTASYON ANALİZİ | CHRNE (EKZON 11, 12) | • KONJENİTAL MYASTENİK SENDROM | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
50 | CONNEKSİN 26 GENİ MUTASYON ANALİZİ | CONNEKSİN 26 (EKZON 2) | • KONJENİTAL SAĞIRLIK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
51 | GJB1 GENİ MUTASYON ANALİZİ | GJB1 (TÜM GEN) | • KONJENİTAL SAĞIRLIK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
52 | MTND GENİ MUTASYON ANALİZİ (A52T, R340H, M64V) | MTND | • LEBER HEREDITER OPTİK NÖROPATİ (LHON) MUTASYON ANALİZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
53 | SH2D1A GENİ MUTASYON ANALİZİ | SH2D1A (TÜM GEN) | • LENFOPROLİFERATİF SENDROM | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
54 | FBN1 GENİ MUTASYON ANALİZİ | FBN1 (TÜM GEN) | • MARFAN SENDROMU | NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
55 | ARSA GENİ MUTASYON ANALİZİ | ARSA (TÜM GEN) | • METAKROMATİK LÖKODİSTROFİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
56 | IDS GENİ MUTASYON ANALİZİ | IDS (TÜM GEN) | • MUKOPOLİSAKKARİDOZİS TİP II | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
57 | GALNS GENİ MUTASYON ANALİZİ | GALNS (TÜM GEN) | • MUKOPOLİSAKKARİDOZİS TİP IVA | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
58 | SMPD GENİ MUTASYON ANALİZİ | SMPD (TÜM GEN) | • NİEMANN-PİCK SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
59 | ELA2 GENİ MUTASYON ANALİZİ | ELA2 (TÜM GEN) | • NÖTROPENİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
60 | CLCN7 GENİ MUTASYON ANALİZİ | CLCN7 (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
61 | OSTM1 GENİ MUTASYON ANALİZİ | OSTM1 (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
62 | TCIRG GENİ MUTASYON ANALİZİ | TCIRG (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
63 | DOK7 GENİ MUTASYON ANALİZİ | DOK7 (TÜM GEN) | • PENA SHOKEİR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
64 | RAPSN GENİ MUTASYON ANALİZİ | RAPSN (TÜM GEN) | • PENA SHOKEİR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
65 | MECP2 GENİ MUTASYON ANALİZİ | MECP2 (TÜM GEN) | • RETT SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
66 | SBDS GENİ MUTASYON ANALİZİ | SBDS (TÜM GEN) | • SHWACHMAN-DİAMOND SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
67 | NEU1 GENİ MUTASYON ANALİZİ | NEU1 (TÜM GEN) | • SİALİDAZ (NÖROMİNİDAZ) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
68 | DHCR7 GENİ MUTASYON ANALİZİ | DHCR7 (TÜM GEN) | • SMİTH-LEMLİ-OPİTZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 45 |
69 | SMN1-2 GENİ MUTASYON ANALİZİ (DELESYON & DUPLİKASYON) | SMN1-2 | • SPİNAL MUSKÜLER ATROFİ (SMA) | MLPA | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 14 |
70 | SMA TAŞIYICILIK | SMN1-2 | • SPİNAL MUSKÜLER ATROFİ (SMA) TAŞIYICILIK | REAL-TIME PCR | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
71 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 10, 15) | • TANATOFORİK DİSPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
72 | ACTA2 GENİ MUTASYON ANALİZİ | ACTA2 (TÜM GEN) | • TORASİK AORTİK ANEVRİZMA AORTİK DİSEKSİYON TİP 4 | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
73 | ACE GENİ MUTASYON ANALİZİ | ACE | • KARDİYOVASKÜLER RİSK | JEL ELEKTROFOREZİ | EDTA'LI KAN | 2-3ML | 10 |
74 | ALFA-1-ANTİTRİPSİN EKSİKLİĞİ | PROTEAZ İNHİBİTÖRÜ (Pİ) | • ALFA-1-ANTİTRİPSİN EKSİKLİĞİ (AAT) | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
75 | APOE GENİ ALLEL ANALİZİ | APOE | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
76 | FGB GENİ MUTASYON ANALİZİ | FGB (BETA-FİBRİNOJEN) (455G>A) | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
77 | HLA GENİ MUTASYON ANALİZİ | HLA (DQ2, DQ8) | • ÇÖLYAK HASTALIĞI – GLUTEN İNTOLERANSI | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
78 | FAKTÖR II GENİ MUTASYON ANALİZİ | FAKTÖR II (PROTROMBİN) | • KARDİYOVASKÜLER RİSK - FII EKSİKLİĞİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
79 | FAKTÖR V MUTASYON ANALİZİ | FAKTÖR V (H1299R) | • KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 7 |
80 | FAKTÖR V LEİDEN MUTASYON ANALİZİ | FAKTÖR V | • KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
81 | FAKTÖR XIII MUTASYON ANALİZİ | FAKTÖR XIII (V34L) | • KARDİYOVASKÜLER RİSK - FXIII EKSİKLİĞİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
82 | FSHB GENİ MUTASYON ANALİZİ | FSHB (211G>T) | • İNFERTİLİTE | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
83 | DNA KİMLİKLENDİRME (FREEZING IONCESI) | FRAGMAN ANALİZİ | EDTA'LI KAN | 2-3ML | 15 | ||
84 | HLAB27 GENİ MUTASYON ANALİZİ | HLAB27 | • OTOİMMUN HASTALIKLAR | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
85 | HPA1 GENİ ALLEL ANALİZİ | HPA1 | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
86 | KARDİYOVASKÜLER RİSK PANELİ (12 MUTASYON) | FGB, HPA1, ACE, APOE, APOV, F13, F2, F5 LEIDEN, MTHFR A1298C, MTHFR C677T, PAI | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ + REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 15 |
87 | MATERNAL KONTAMİNASYON TESTİ | • KONTAMİNASYON ELİMİNASYONU | FRAGMAN ANALİZİ | EDTA'LI KAN + ABORT/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 | |
88 | MTHFR GENİ MUTASYON ANALİZİ | MTHFR (A1298C) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
89 | MTHFR GENİ MUTASYON ANALİZİ | MTHFR (C677T) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
90 | PAI-1 GENİ MUTASYON ANALİZİ | PAI-1 (4G/5G) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
91 | TROMBOFİLİ PANELİ | FAKTÖR II, FAKTÖR V, MTHFR C677T, MTHFR A1298C | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
92 | Y KROMOZOM MİKRODELESYONU | Y KROMOZOMU (24 STR) | • İNFERTİLİTE | FRAGMAN ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
93 | 13, 18, 21, X VE Y KROMOZOMU HIZLI FISH | 13, 18, 21, X VE Y KROMOZOMU | • KROMOZOMAL HASTALIK ŞÜPHESİ • İNFERTİLİTE | FISH ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 3 |
94 | SPERM FISH | 13, 18, 21, X VE Y KROMOZOMU | • İNFERTİLİTE | FISH ANALİZİ | KONSANTRE SPERM | 3-5 | |
95 | SPERM DNA FRAGMANTASYONU ANALİZİ | İNFERTİLİTE | TUNNEL TESTİ | KONSANTRE SPERM | 15 | ||
96 | MİKRODELESYON FISH - ALAGİLLE | JAG1 (20p12.2) | • ALAGİLLE SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
97 | MİKRODELESYON FISH - CRİ-DU-CHAT | 5p15.2 | • CRİ-DU-CHAT SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
98 | MİKRODELESYON FISH - DİGEORGE/VCFS | TUPLE1 (22q11.2) | • DİGEORGE/VCFS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
99 | MİKRODELESYON FISH - DİYAFRAGMA HERNİSİ | IGF1R (15q26) | • KONJENİTAL DİYAFRAGMATİK HERNİ | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
100 | MİKRODELESYON FISH - KALLMANN | KAL1 (Xp22.3) | • KALLMANN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
101 | MİKRODELESYON FISH - NÖROFİBROMATOZİS | NF1 (17q11.2) | • NÖROFİBROMATOZİS TİP 1 | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
102 | MİKRODELESYON FISH - PRADER-WİLLİ/ANGELMAN | SNRPN (15q11.2) | • PRADER-WİLLİ/ANGELMAN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
103 | MİKRODELESYON FISH - SMİTH-MAGENİS | RAI1 (17p11.2) | • SMİTH-MAGENİS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
104 | MİKRODELESYON FISH - SOTOS | NSD1 (5q35) | • SOTOS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
105 | MİKRODELESYON FISH - WİLLİAMS-BEUREN | ELN (7q11.23) | • WİLLİAMS-BEUREN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
106 | MİKRODELESYON FISH - WOLF-HİRSCHHORN | WHSC (4516.3) | • WOLF-HİRSCHHORN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
107 | MİKRODELESYON FISH - X İNAKTİVASYONU | XIST (Xq13.2) | • X İNAKTİVASYONU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
108 | KİMERİZM ANALİZİ - FISH ANALİZİ İLE | • NAKİL SONRASI TRANSPLANTASYON BAŞARISI | FISH ANALİZİ | KAN (HEPARİN) / KEMİK İLİĞİ (HEPARİN) | 2-3 ML | 3-5 | |
109 | KEMİK İLİĞİ (Kİ) TRANSPLANTASYONU SONRASI | • NAKİL SONRASI TRANSPLANTASYON BAŞARISI | MOLEKÜLER | KAN (EDTALI) /KEMİK İLİĞİ (EDTALI) | 2-3 ML | 3-5 | |
110 | FISH ANALİZİ - EML4/ALK | EML4/ALK | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
111 | FISH ANALİZİ - 1p/19q DELESYONLARI | 1p36 & 19q13 | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
112 | FISH ANALİZİ - ATM TRANSLOKASYON | ATM (11q22.3) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
113 | FISH ANALİZİ - RB1 DELESYON | RB1 (13q14) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
114 | FISH ANALİZİ - 13q14.3 DELESYON | D13S319 (13q14.3) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
115 | FISH ANALİZİ - LAMp1 TRANSLOKASYON | LAMp1 (13q34) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
116 | FISH ANALİZİ - IGH TRANSLOKASYON | IGH (14q32) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
117 | FISH ANALİZİ – IGF1R AMPLİFİKASYON VE DELESYON | IGF1R (15q26) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 2-3 ML | 7 |
118 | FISH ANALİZİ - P53 DELESYON | P53 (17p13.1) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
119 | FISH ANALİZİ – RARA TRANSLOKASYON | RARA (17q21) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
120 | FISH ANALİZİ - MALT1 TRANSLOKASYON VE KROMOZOM 18 ANÖPLOİDİSİ | MALT1 (18q21) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), FFPE | 2-3 ML | 7 |
121 | FISH ANALİZİ - 20/20q DELESYON | 20q13.2 | • AKUT MYELOİD LÖSEMİ (AML), • MYELODİSPLASTİK SENDROM (MDS), • POLİSİTEMİA VERA (PV) • PROGNOZ VE TEDAVİYE YANIT | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN) | 2-3 ML | 7 |
122 | FISH ANALİZİ - AURKA | AURKA (20q13) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
123 | FISH ANALİZİ - EGR1 DELESYONU VEYA KROMOZOM 5 ANÖPLOİDİSİ | EGR1 (5q31) | • KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS) | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
124 | FISH ANALİZİ - 7/7q DELESYONU VEYA KROMOZOM 7 ANÖPLOİDİSİ | 7/7q- (7q31) | • KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS) | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
125 | FISH ANALİZİ - C-MYC AMPLİFİKASYON | C-MYC (8q24) | • KANSER, • BARRET ÖZOFAGUS | FISH ANALİZİ | FFPE, BRONŞİAL YIKAMA ÖRNEĞİ | 7 | |
126 | FISH ANALİZİ - C-MET AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ | C-MET (7q31.2) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
127 | FISH ANALİZİ - EGFR AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ | EGFR (7p12) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
128 | FISH ANALİZİ - FIP1L1/PDGFRA TRANSLOKASYON | FIP1L1/PDGFRA (4q12) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
129 | FISH ANALİZİ - HER2/NEU AMPLİFİKASYON VE DELESYON | HER2/NEU (17q11.2-12) (C-ERBB2) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
130 | FISH ANALİZİ - KROMOZOM 12 ANÖPLOİDİSİ | KROMOZOM 12 | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
131 | FISH ANALİZİ - KROMOZOM 8 ANÖPLOİDİSİ | KROMOZOM 8 | • KANSER, • MYELODİSPLASTİK SENDROM (MDS) | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN) | 2-3 ML | 7 |
132 | FISH ANALİZİ - N-MYC AMPLİFİKASYONU VE KROMOZOM 2 ANÖPLOİDİSİ | N-MYC (2p24.3) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
133 | FISH ANALİZİ - TEL/AML1 TRANSLOKASYON | TEL/AML1 (12q13.2 / 21q22.12) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
134 | FISH ANALİZİ - MLL TRANSLOKASYON | MLL (11q23) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
135 | FISH ANALİZİ - E2A (TCF3) TRANSLOKASYON | E2A (TCF3) (19p13.3) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), FFPE | 2-3 ML | 7 |
136 | FISH ANALİZİ - EWSR1 TRANSLOKASYON | EWSR1 (22q12) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
137 | FISH ANALİZİ - CCND1/IGH TRANSLOKASYON VE FÜZYON | CCND1/IGH 11q13/14q32 t(11;14) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
138 | FISH ANALİZİ - API2/MALT1 TRANSLOKASYON VE FÜZYON | API2/MALT1 11q21/18q21 t(11;18) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), FFPE | 2-3 ML | 7 |
139 | FISH ANALİZİ - IGH/MAF TRANSLOKASYON VE FÜZYON | IGH/MAF 14q32/16q23 t(14;16) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
140 | FISH ANALİZİ - IGH/BCL2 TRANSLOKASYON VE FÜZYON | IGH/BCL2 14q32/18q21 t(14;18) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
141 | FISH ANALİZİ - PML/RARA TRANSLOKASYON VE FÜZYON | PML/RARA 15q22/17q21.1 t(15;17) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
142 | FISH ANALİZİ - CBFB/MYH11 TRANSLOKASYON VE FÜZYON | CBFB (16q22) MYH11 (16p13.1) t(16;16)(p13;q22) | • KANSER, • EOZİNOFİLİK SENDROMLAR | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
143 | FISH ANALİZİ – ALK TRANSLOKASYON VE FÜZYON | ALK (2p23) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
144 | FISH ANALİZİ - IGH/FGFR3 TRANSLOKASYON VE FÜZYON | IGH/FGFR3 4p16.3/14q32.33 t(4;14) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
145 | FISH ANALİZİ - IGH/MYC TRANSLOKASYON VE FÜZYON | MYC/IGH 8q24.21/14q32.33 t(8;14) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), FFPE | 2-3 ML | 7 |
146 | FISH ANALİZİ - ETO/AML1 TRANSLOKASYON VE FÜZYON | ETO/AML1 8q21.3/21q22.12 t(8;21) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
147 | FISH ANALİZİ - BCR/ABL TRANSLOKASYON VE FÜZYON | BCR/ABL 22q11.22/9q34.11 t(9;22) | • KANSER | FISH ANALİZİ | KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
148 | FISH ANALİZİ - TOp2A AMPLİFİKASYON VE DELESYON | TOP2A (17q21.2) | • KANSER, • İLAÇ TEDAVİSİNE YANIT, • ANTRASİKLİNLER | FISH ANALİZİ | FFPE | 7 | |
149 | FISH ANALİZİ - ROS1 TRANSLOKASYON | ROS1 (6q22.1) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
150 | FISH ANALİZİ - PD-L1&2 (CD274) AMPLİFİKASYON VE DELESYON | PD-L1&2 (9p24.1) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
151 | ABL1 GENİ MUTASYON ANALİZİ | ABL1 (EKZON 4, 5, 6) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA), FFPE | 2-3 ML | 15 |
152 | BRAF GENİ MUTASYON ANALİZİ | BRAF (EKZON 11, 15) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 10 | |
153 | BRAF + NRAS GENİ MUTASYON ANALİZİ | BRAF (EKZON 11, 15) + NRAS (EKZON 1, 2, 3) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | KAN (STRECK) FFPE | 10 ML | 10 |
154 | BRCA1 - BRCA2 GENİ MUTASYON ANALİZİ | BRCA1 (TÜM GEN) BRCA2 (TÜM GEN) | • KANSER • KANSER YATKINLIK • İLAÇ TEDAVİSİNE YANIT | NGS | KAN (EDTA), FFPE | 2-3 ML | 45 |
155 | CHEK2 GENİ MUTASYON ANALİZİ | CHEK2 (EKZON 9, 10) | • KANSER, • Lİ-FRAUMENİ SENDROMU TİP II, • İLAÇ TEDAVİSİNE YANIT, • ANTRASİKLİNLER | DİZİ ANALİZİ | KAN (EDTA), FFPE | 2-3 ML | 10 |
156 | EGFR GENİ MUTASYON ANALİZİ | EGFR (EKZON 18, 19, 20, 21) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | FFPE KAN (STRECK) | 10 ML | 10 |
157 | FLT3 GENİ MUTASYON ANALİZİ | FLT3 İNTERNAL TANDEM DUPLİKASYON (ITD) VE D835 | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
158 | HRAS GENİ MUTASYON ANALİZİ | HRAS (EKZON 1, 2) | • KANSER | DİZİ ANALİZİ | FFPE | 10 | |
159 | IDH1 GENİ MUTASYON ANALİZİ | IDH1 (EKZON 4) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) FFPE | 2-3 ML | 10 |
160 | IDH2 GENİ MUTASYON ANALİZİ | IDH2 (EKZON 4) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) FFPE | 2-3 ML | 10 |
161 | JAK2 GENİ MUTASYON ANALİZİ | JAK2 (V617F) | • KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • HİPEREOZİNOFİLİK SENDROM (HES), • MYELODİSPLASTİK SENDROMLAR (MDS), • POLİSİTEMİA VERA (PV), • İLAÇ TEDAVİSİNE YANIT, • RELAPS İZLEMİ | REAL-TIME PCR | KAN (EDTA), KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
162 | JAK2 GENİ MUTASYON ANALİZİ | JAK2 (EKZON 12) | • KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • HİPEREOZİNOFİLİK SENDROM (HES), • MYELODİSPLASTİK SENDROMLAR (MDS), • POLİSİTEMİA VERA (PV), • İLAÇ TEDAVİSİNE YANIT, • RELAPS İZLEMİ | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
163 | KIT GENİ MUTASYON ANALİZİ | KIT (EKZON 9, 11, 13, 17) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA), FFPE | 2-3 ML | 15 |
164 | KİMERİZM ANALİZİ - PCR ANALİZİ İLE (ALICI - VERİCİ) | • KEMİK İLİĞİ NAKLİ SONRASI TRANSPLANTASYON BAŞARISI | FRAGMAN ANALİZİ | KAN (EDTA) | 2-3 ML | 10 | |
165 | KRAS GENİ MUTASYON ANALİZİ | KRAS (TÜM GEN) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), FFPE | 2-3 ML | 21 |
166 | KRAS GENİ MUTASYON ANALİZİ | KRAS (KODON 12, 13, 59, 61, 117, 146) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | KAN (STRECK), FFPE | 10 ML | 10 |
167 | KRAS + NRAS GENİ MUTASYON ANALİZİ | KRAS + NRAS (KODON 12, 13, 59, 61, 117, 146) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | KAN (STRECK), FFPE | 10 ML | 10 |
168 | MİKROSATELLİT İNSTABİLİTESİ (MSI) | DNA STR BÖLGELERİ | • HEREDİTER NONPOLİPOZİS KOLOREKTAL KANSER (HNPCC) MMR GEN ANALİZİ ÖNCESİNDE | FRAGMAN ANALİZİ | KAN (EDTA) FFPE | 2-3 ML | 15 |
169 | MPL GENİ MUTASYON ANALİZİ | MPL (W515L/K VE S505N) | • KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • MYELOFİBROZİS İLE GİDEN MYELOİD METAPLAZİ | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
170 | NPM1 GENİ MUTASYON ANALİZİ | NPM1 (EKZON 12) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
171 | NRAS GENİ MUTASYON ANALİZİ | NRAS (KODON 12, 13, 59, 61, 117, 146) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | KAN (STRECK), FFPE | 10 ML | 10 |
172 | p16 GENİ MUTASYON ANALİZİ | p16 (TÜM GEN ) | • KANSER | DİZİ ANALİZİ | FFPE | 15 | |
173 | P53 GENİ MUTASYON ANALİZİ | P53 (EKZON 4, 5, 6, 7, 8, 9) | • Lİ FRAUMENİ SENDROMU TİP I, • KANSER | DİZİ ANALİZİ | FFPE | 15 | |
174 | PDGFRA GENİ MUTASYON ANALİZİ | PDGFRA (12, 18, 19) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 15 | |
175 | PDGFRB GENİ MUTASYON ANALİZİ | PDGFRB (EKZON 18, 19) | • KANSER • KOSAKİ SENDROMU • İNFANTİL MİYOFİBROMATOZİS | DİZİ ANALİZİ | FFPE | 10 | |
176 | PIK3CA GENİ MUTASYON ANALİZİ | PIK3CA (EKZON 9, 20) | • KANSER | DİZİ ANALİZİ | FFPE | 10 | |
177 | PTEN GENİ MUTASYON ANALİZİ | PTEN (TÜM GEN) | • KANSER • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 21 | |
178 | BCR/ABL TRANSLOKASYONU | BCR-ABL t(9;22) | • KANSER | REAL-TIME PCR | KAN (EDTA) KEMİK İLİĞİ (EDTA) | 2-3 ML | 10 |
179 | RET GENİ MUTASYON ANALİZİ | RET (EKZON 10, 11, 13, 14, 15, 16) | • KANSER • MULTİPLE ENDOKRİN NEOPLAZİ TİP 2A/2B (MEN2A/MEN2B) | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
180 | DPYD GENİ MUTASYON ANALİZİ | DPYD (IVS14 + 1G>A, DPYD*2A) | • DPD EKSİKLİĞİ • 5-FLUOROURACİL TOKSİSİTESİ | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
181 | UGT1A1 TEKRAR ANALİZİ | UGT1A1*28 (TATA BOX) | • İRİNOTEKAN TOKSİSİTESİ • KALITSAL HİPERBİLİRÜBİNEMİ • GILBERT SENDROMU | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
182 | TPMT MUTASYON ANALİZİ (TPMT*2, *3A, *3B, *3C ALLEL TESTİ) | TPMT (c.238, c.460, c.719) | • AZATHİOPRİNE TOKSİSİTESİ • 6-MERCAPTURİNE TOKSİSİTESİ • 6-THİOGUANİNE TOKSİSİTESİ | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
183 | GSTM1 MUTASYON ANALİZİ (3 POLİMORFİZM) | GSTM1 | • İLAÇ TOKSİSİTESİ • KANSER RİSK ANALİZİ | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
184 | İLAÇ SENSİTİVİTE PANELİ - GENİŞ PANEL | CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
185 | İLAÇ SENSİTİVİTE PANELİ - STANDART PANEL | CYP2D6, CYP2C9, CYP2C19 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
186 | İLAÇ SENSİTİVİTE PANELİ - NÖROPSİKİYATRİ | CYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
187 | İLAÇ SENSİTİVİTESİ - WARFARIN DOZ PANELİ | CYP2C9, VKORC1 (CYP2C9 *2, *3, VKORC1 -1639G>A) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
188 | İLAÇ SENSİTİVİTESİ - VKORC1 GENİ MUTASYON ANALİZİ | VKORC1 (-1639C>A) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
189 | CYP2C19 GENİ MUTASYON ANALİZİ | CYP2C9( *1,*2, *3, *4, *17) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
190 | İLAÇ SENSİTİVİTESİ - CYP2D6 MUTASYON ANALİZİ | CYP2D6 (*1, *2, *3, *4, *6, *7, *8, *9, *10, *11, *12, *14, *17, *29, *39, *41) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
191 | CYP1A2 MUTASYON ANALİZİ (2 POLİMORFİZM: CYP1A2 | CYP1A2 (*1C, *1F) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
192 | CYP3A4 MUTASYON ANALİZİ | CYP3A4 (*2) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
193 | 5HTT (SCL6A4) MUTASYON ANALİZİ | SCL6A4 (KISA ALLEL VEYA DELESYON) | • SSRI SENSİTİVİTESİ VE DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
194 | PGT-M: SIK TEK GEN HASTALIKLARI (TALASEMİ, KİSTİK FİBROZİS. SMA, FMF, HLA TİPLEMESİ) AİLE MARKER ÇALIŞMASI İÇİN 15 GÜNLÜK SÜREYE İHTİYAÇ VARDIR. | • TALASEMİ: HBA1, HBA2, HBB • KİSTİK FİBROZ: CFTR • SMA: SMN1, SMN2 • FMF: MEFV • HLA TİPLEMESİ: HLA | • TEK GEN HASTALIĞI | DİZİ ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA) | 6 HAFTA | |
195 | PGT-M: NADİR TEK GEN HASTALIKLARI. | KURUMDAN BİLGİ ALINIZ. | DİZİ ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA) | 8 HAFTA | ||
196 | HLA + TEK GEN HASTALIĞI (PGT-M) | HLA + TEK GEN HASTALIĞI | DİZİ ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA) | 8 HAFTA | ||
197 | EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 5 KROMOZOM | 13, 16, 18, 21, 22 VEYA 13, 18, 21, X, Y KROMOZOMLARI | • SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
198 | EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 7 KROMOZOM | 13, 16, 18, 21, 22, X, Y KROMOZOMLARI | • SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
199 | EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 9 KROMOZOM | 13, 15, 16, 17, 18, 21, 22, X, Y KROMOZOMLARI | • SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
200 | FISH İNCELEMESİ - YAPISAL KROMOZOMAL HASTALIKLAR İÇİN | • YAPISAL KROMOZOM ANOMALİLERİ • RECİPROKAL TRANSLOKASYON • ROBERTSONİAN TRANSLOKASYON • İNSERSİYONEL TRANSLOKASYON • İNSERSİYONEL DELESYON • İNSERSİYONEL DUPLİKASYON • İNVERSİYON | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | ||
201 | X KROMOZOMU İLE KALITILAN HASTALIKLARDA FISH İNCELEMESİ | X KROMOZOMU | • X-KROMOZOMU İLE AKTARILAN HASTALIKLAR | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
202 | EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI (PGT-A) | 24 KROMOZOM - SAYISAL VE YAPISAL KROMOZOM BOZUKLUKLARI (8 Mb VE ÜSTÜ) | • SAYISAL VE YAPISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ | NGS | 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 15 | |
203 | EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI – (PGT-A + PGT-SR) | 24 KROMOZOM - TRANSLOKASYON, İNVERSİYON (8Mb VE ALTI) | ANNE VE/VEYA BABADA GÖZLENEN TRANSLOKASYON/INVERSIYON TAŞIYICILIĞI | NGS | 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 3 HAFTA | |
204 | NGS FOCUS 15 | AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53 | KANSER | NGS | FFPE | ||
205 | NGS FOCUS 77 | ABL1, AKT1, AKT2, ALK, APC, AR, ARAF, BRAF, BRCA1, BRCA2, CCND1, CCND2, CCND3, CD274, CDK4, CDK6, CDKN2A, CSF1R, CTNNB1, DDR2, DPYD, EGFR, ERBB2, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT1, FLT3, FLT4, GATA3, GNA11, GNAQ, GNAS, IDH1, IDH2, JAK2, JAK3, KDR, KEAP1 , KIT, KRAS , MAP2K1, MAP2K2, MET, MLH1 , MSH2 , MSH6 , MTOR, NF2 , NFE2L2, NRAS, NTRK1, PDCD1LG2 , PDGFRA, PDGFRB, PIK3CA, PIK3R1, PMS2 , PTCH1, PTEN, RAF1, RB1 , RET, RNF43, ROS1, SMAD4 , SMO , STK11 , TP53, TERT Promoter, TSC1, TSC2, UGT1A1***, VHL | KANSER | NGS | FFPE | ||
206 | NGS FOCUS 77L | ABL1, AKT1, AKT2, ALK, APC, AR, ARAF, BRAF, BRCA1, BRCA2, CCND1, CCND2, CCND3, CD274, CDK4, CDK6, CDKN2A, CSF1R, CTNNB1, DDR2, DPYD, EGFR, ERBB2, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT1, FLT3, FLT4, GATA3, GNA11, GNAQ, GNAS, IDH1, IDH2, JAK2, JAK3, KDR, KEAP1 , KIT, KRAS , MAP2K1, MAP2K2, MET, MLH1 , MSH2 , MSH6 , MTOR, NF2 , NFE2L2, NRAS, NTRK1, PDCD1LG2 , PDGFRA, PDGFRB, PIK3CA, PIK3R1, PMS2 , PTCH1, PTEN, RAF1, RB1 , RET, RNF43, ROS1, SMAD4 , SMO , STK11 , TP53, TERT Promoter, TSC1, TSC2, UGT1A1***, VHL | KANSER | NGS | ctDNA | ||
207 | NGS FOCUS HEREDITER | ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2 | KANSER YATKINLIK | NGS | KAN | ||
208 | NGS FOCUS CGP | DNA: ABL1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1(FAM123B), APC, AR, ARAF, ARFRP1, ARID1A, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXL, BAP1, BARD1, BCL2, BCL2L1, BCL2L2, BCL6, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTG2, BTK, C11ORF30(EMSY), CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD22, CD274(PD-L1), CD70, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CIC, CREBBP, CRKL, CSF1R, CSF3R, CTCF, CTNNA1, CTNNB1, CUL3, CUL4A, CXCR4, CYP17A1, DAXX, DDR1, DDR2, DIS3, DNMT3A, DOT1L, EED, EGFR, EP300, EPHA3, EPHB1, EPHB4, ERBB2, ERBB3, ERBB4, ERCC4, ERG, ERRFI1, ESR1, EZH2, FAM46C, FANCA, FANCC, FANCG, FANCL, FAS, FBXW7, FGF10, FGF12, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLT1, FLT3, FOXL2, FUBP1, GABRA6, GATA3, GATA4, GATA6, GID4(C17ORF39), GNA11, GNA13, GNAQ, GNAS, GRM3, GSK3B, H3F3A, HDAC1, HGF, HNF1A, HRAS, HSD3B1, ID3, IDH1, IDH2, IGF1R, IKBKE, IKZF1, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIT, KLHL6, KMT2A(MLL), KMT2D(MLL2), KRAS, LTK, LYN, MAF, MAP2K1(MEK1), MAP2K2(MEK2), MAP2K4, MAP3K1, MAP3K13, MAPK1, MCL1, MDM2, MDM4, MED12, MEF2B, MEN1, MERTK, MET, MITF, MKNK1, MLH1, MPL, MRE11A, MSH2, MSH3, MSH6, MST1R, MTAP, MTOR, MUTYH, MYC, MYCL(MYCL1), MYCN, MYD88, NBN, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NT5C2, NTRK1, NTRK2, NTRK3, P2RY8, PALB2, PARK2, PARP1, PARP2, PARP3, PAX5, PBRM1, PDCD1(PD-1), PDCD1LG2(PD-L2), PDGFRA, PDGFRB, PDK1, PIK3C2B, PIK3C2G, PIK3CA, PIK3CB, PIK3R1, PIM1, PMS2, POLD1, POLE, PPARG, PPP2R1A, PPP2R2A, PRDM1, PRKAR1A, PRKCI, PTCH1, PTEN, PTPN11, PTPRO, QKI, RAC1, RAD21, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RB1, RBM10, REL, RET, RICTOR, RNF43, ROS1, RPTOR, SDHA, SDHB, SDHC, SDHD, SETD2, SF3B1, SGK1, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SNCAIP, SOCS1, SOX2, SOX9, SPEN, SPOP, SRC, STAG2, STAT3, STK11, SUFU, SYK, TBX3, TEK, TET2, TGFBR2, TIPARP, TNFAIP3, TNFRSF14, TP53, TSC1, TSC2, TYRO3, U2AF1, VEGFA, VHL, WHSC1(MMSET), WHSC1L1, WT1, XPO1, XRCC2, ZNF217, ZNF703 RNA: ALK, BCL2, BCR, BRAF, BRCA1, BRCA2, CD74, EGFR, ETV4, ETV5, ETV6, EWSR1, EZR, FGFR1, FGFR2, FGFR3, KIT, KMT2A(MLL), MSH2, MYB, MYC, NOTCH2, NTRK1, NTRK2, NUTM1, PDGFRA, RAF1, RARA, RET, ROS1, RSPO2, SDC4, SLC34A2, TERC*, TERT(PROMOTER-ONLY)**, TMPRSS2 | KANSER | NGS | FFPE | ||
209 | NGS FOCUS TMB | 1.65 Mb of DNA | KANSER | NGS | FFPE | ||
210 | NGS FOCUS 500 | DNA: ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, ZRSR2 RNA: ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, MET, MLL, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, TMPRSS2 | KANSER | NGS | FFPE | ||
211 | NGS FOCUS 500 HRD | NGS FOCUS 500 + HRD SKOR | KANSER | NGS | FFPE | ||
212 | NGS FOCUS RNA FUSION | ABI1, ABL1, ABL2, ACACA, ACE, ACER1, ACKR3, ACSL6, ADD3, AFF1, AFF3, AFF4, AGR3, AHI1, AHRR, ALK, ANKRD28, AR, ARHGAP20, ARHGAP26, ARNT, ASPSCR1, ASTN2, ATF1, ATIC, ATP1B4, AUTS2, BACH2, BAG4, BAIAP2L1, BAZ2A, BCAS3, BCAS4, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL3, BCL6, BCL9, BCOR, BCR, BDNF, BICC1, BIRC3, BIRC6, BRAF, BRD1, BRD3, BRD4, BRWD3, BTBD18, BTG1, C11orf1, C11orf95, C2CD2L, C3orf27, CAMTA1, CAPRIN1, CARS, CASC5, CASP7, CBFA2T3, CBFB, CBL, CCAR2, CCDC28A, CCDC6, CCDC88C, CCNB1IP1, CCNB3, CCND1, CCND2, CCND3, CD74, CDH11, CDK5RAP2, CDK6, CDX1, CDX2, CEBPA, CEBPB, CEBPD, CEBPE, CEP170B, CEP85L, CHD6, CHIC2, CHMP2B, CHST11, CIC, CIITA, CLP1, CLTC, CLTCL1, CMKLR1, CNBP, CNOT2, CNTRL, COG5, COL1A1, COL1A2, COL6A3, COX6C, CPSF6, CRADD, CREB1, CREB3L1, CREB3L2, CREBBP, CRLF2, CRTC1, CSF1, CSF1R, CTDSP2, CTNNB1, CUX1, DAB2IP, DACH1, DACH2, DDIT3, DDX10, DDX20, DEK, DMRT1, DNAJB1, DPM1, DUSP22, DUX4, EBF1, EEFSEC, EGFR, EGR1, EGR2, EGR3, EGR4, EIF4A2, ELF4, ELK4, ELL, ELN, EML1, EML4, EP300, EP400, EPC1, EPOR, EPS15, ERBB3, ERC1, ERCC1, ERG, ERLIN2, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZR, FAM19A2, FCGR2B, FCRL4, FEN1, FEV, FGF8, FGFR1, FGFR1OP, FGFR1OP2, FGFR2, FGFR3, FGFR4, FHIT, FIP1L1, FLI1, FLNA, FLT3, FLT3LG, FNBP1, FOSB, FOSL1, FOXO1, FOXO4, FOXP1, FRK, FRYL, FUS, GAS5, GAS7, GATA1, GIT2, GLI1, GOSR1, GOT1, GPR128, GPR34, GRHPR, GRID1, GTF2I, H2AFX, HAS2, HEY1, HHEX, HIP1, HIPK1, HIST1H4I, HLF, HMGA2, HNF1A, HOXA10, HOXA11, HOXA13, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HSP90AA1, ID4, IKZF1, IL2, IL21R, IL3, INPP5D, IQCG, IRF2BP2, IRF4, IRS4, ITK, JAK1, JAK2, JAZF1, KANK1, KAT6A, KAT6B, KDM5A, KIAA1524, KIF5B, KMT2A, KPNB1, KSR1, LASP1, LCK, LCP1, LGR5, LHFP, LHX2, LHX4, LINC00598, LINC00982, LMBRD1, LMO1, LMO2, LNP1, LPP, LPXN, LRMP, LRRC37B, LTBP1, LYL1, MACROD1, MAF, MAFB, MALT1, MAML2, MAPRE1, MBNL1, MBTD1, MDS2, MEAF6, MECOM, MGEA5, MKL1, MKL2, MLF1, MLLT1, MLLT10, MLLT11, MLLT3, MLLT4, MLLT6, MN1, MNX1, MSI2, MSN, MUC1, MUTYH, MYB, MYBL1, MYC, MYH11, MYH9, MYO18A, MYO1F, NAB2, NAPA, NBEAP1, NBR1, NCOA1, NCOA2, NCOA3, NDE1, NF1, NFATC2, NFIB, NGF, NGFR, NIN, NIPBL, NKX2-5, NONO, NOTCH1, NPM1, NR4A3, NR6A1, NSD1, NT5C2, NTF3, NTF4, NTRK1, NTRK2, NTRK3, NUMA1, NUP107, NUP214, NUP98, NUTM1, NUTM2A, NUTM2B, OFD1, OLIG2, OLR1, OMD, P2RY8, PAPPA, PATZ1, PAX3, PAX5, PAX7, PAX8, PBX1, PCM1, PDE4DIP, PDGFB, PDGFRA, PDGFRB, PER1, PHF1, PHF23, PICALM, PIM1, PLAG1, PML, POM121, POU2AF1, POU5F1, PPAP2B, PPARG, PPARGC1A, PPFIBP1, PPP2R1B, PRCC, PRDM16, PRKACA, PRKAR1A, PRKG2, PRRX2, PSIP1, PSMD2, PTPRR, PVT1, RABEP1, RAD51B, RAF1, RANBP2, RAP1GDS1, RARA, RBM15, RBM6, RCOR1, RCSD1, RET, RHOH, RNF213, ROS1, RPL22, RPN1, RREB1, RRM1, RTEL1, RUNX1, RUNX1T1, SARNP, SEC31A, SEPT2, SEPT5, SEPT6, SEPT9, SERPINE1, SERPINF1, SET, SETBP1, SFPQ, SH3D19, SH3GL1, SIK3, SLC34A2, SLC45A3, SLCO1B3, SMAP1, SMARCA5, SMARCB1, SNHG5, SORBS2, SORT1, SP3, SPECC1, SPTBN1, SQSTM1, SRF, SRSF3, SS18, SS18L1, SSBP2, SSX1, SSX2, SSX4, ST6GAL1, STAT5B, STAT6, STRN, SUGP2, SUZ12, SYK, TACC1, TACC2, TACC3, TAF15, TAL1, TAL2, TAOK1, TBX15, TCF12, TCF3, TCL1A, TCTA, TEAD1, TEAD2, TEAD3, TEAD4, TEC, TENM1, TET1, TFE3, TFG, TFPT, TFRC, TGFBR3, THADA, THRAP3, TIRAP, TLX1, TLX3, TMPRSS2, TNFRSF17, TOP1, TOP2B, TP53BP1, TPM3, TPM4, TRHDE, TRIM24, TRIP11, TRPS1, USP16, USP42, USP6, VGLL3, WASF2, WDR18, WDR70, WHSC1, WHSC1L1, WSB1, WT1, WWTR1, XIAP, YAP1, YTHDF2, YWHAE, ZBTB16, ZC3H7A, ZC3H7B, ZFP64, ZFPM2, ZFYVE19, ZMIZ1, ZMYM2, ZMYND11, ZNF207, ZNF384, ZNF444, ZNF521, ZNF585B, ZNF687 | KANSER | NGS | FFPE |
* In order for PGD to be performed in single gene diseases, the clinical diagnosis of the disease in the family must be established and the mutation must be identified by genetic testing.
* If the mutation has not been identified, additional time is needed to identify the mutation by examining the disease-causing gene (in a domestic or foreign center).
* If a mutation has been identified, it is mandatory to perform set-up for mutations that fall into the other disease group in our list before IVF and PGD.