| Sİra No. | Test İsmi | Gen/Bölge | Endikasyon | Analiz Yöntemi | Örnek Tipi | Miktar (min) | Rapor Tarihi (gün) |
|---|---|---|---|---|---|---|---|
| 1 | KROMOZOM ANALİZİ - KAN | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE | HÜCRE KÜLTÜRÜ | PERİFERİK KAN (HEPARİNLİ) / KEMİK İLİİİ | 2-3 ML | 15 |
| 2 | KROMOZOM ANALİZİ - AMNİYON SIVISI | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • PATOLOJİK USG • MATERNAL YAİ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | AMNİYON SIVISI | 15-20ML | 21 |
| 3 | KROMOZOM ANALİZİ - CVS | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • PATOLOJİK USG • MATERNAL YAİ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORYONİK VİLLUS | 2-3 ADET VİLLUS (2-3MG) | 21 |
| 4 | KROMOZOM ANALİZİ - KORD | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • PATOLOJİK USG • MATERNAL YAİ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORD KANI (HEPARİNLİ) | 2-3ML | 7 |
| 5 | KROMOZOM ANALİZİ - ABORTUS | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • TEKRARLAYAN GEBELİK KAYIPLARI | HÜCRE KÜLTÜRÜ | ABORTUS MATERYALİ | 30-50İG | 21 |
| 6 | KROMOZOM ANALİZİ - CİLT DOKUSU | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE | HÜCRE KÜLTÜRÜ | CİLT DOKUSU | 30-50İG | 21 |
| 7 | KROMOZOM ANALİZİ + HIZLI FISH - AMNİYON SIVISI | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • PATOLOJİK USG • MATERNAL YAİ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | AMNİYON SIVISI | 15-20ML | 2 + 21 |
| 8 | KROMOZOM ANALİZİ + HIZLI FISH - CVS | 24 KROMOZOM | • KROMOZOMAL HASTALIK İÜPHESİ • PATOLOJİK USG • MATERNAL YAİ • ANORMAL TRİPLE TEST | HÜCRE KÜLTÜRÜ | KORYONİK VİLLUS | 2-3MG | 2 + 21 |
| 9 | MOLEKÜLER GENETİK - MOLEKÜLER KARYOTİPLEME | 24 Kromozom | İNFERTİLİTE DÜİÜK TEKRARLI DÜİÜK TANIMLANAMAMIİ 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) | • 5İ-REDÜKTAZ EKSİKLİİİ 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 EKSİKLİİİ | 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 | HLA-DQ2, HLA-DQ8 | HLA-DQ2, HLA-DQ8 | Çölyak Hastalİİİ | ||||
| 17 | RPS19 GENİ MUTASYON ANALİZİ | RPS19 (TÜM GEN) | • BLACKFAN-DIAMOND ANEMİSİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 18 | NOTCH3 GENİ MUTASYON ANALİZİ | NOTCH3 (EKZON 3,4) | • CADASIL | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
| 19 | NOTCH3 GENİ MUTASYON ANALİZİ | NOTCH3 (EKZON 3,4,11,18,19) | • CADASIL | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 30 |
| 20 | ASPA GENİ MUTASYON ANALİZİ | ASPA (TÜM GEN) | • CANAVAN | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 21 | MPZ GENİ MUTASYON ANALİZİ | MPZ (TÜM GEN) | • CHARCOT-MARİE-TOOTH | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 22 | PTPN11 GEN DİZİ ANALİZİ | PTPN11 Geni Dizi Analizi | Noonan Sendromu | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 30 |
| 23 | RASOPATİ PANELİ | (NOONAN, COTESLLO, CARDİOFASCİOCUTANÖZ SENDROM | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 60 | |
| 24 | 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 |
| 25 | PMP22 GENİ DUPLİKASYON ANALİZİ | PMP22 | • CHARCOT-MARİE-TOOTH (CMT1A) | FRAGMAN ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 26 | 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 |
| 27 | TOR1A1 GENİ GAG DELESYON ANALİZİ | TOR1A1 | • DİSTONİA (DYT1) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 28 | DİSTROFİN GENİ MUTASYON ANALİZİ | DİSTROFİN (79 EKZON) | • DMD/BMD | MLPA | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 29 | TÜM EKZOM SEKANSLAMA (WES) | TÜM EKZOM | • EKZOM SEKANSLAMA | NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 60 |
| 30 | MODY TEST PANELİ | MODY (21 GEN) | 21 GEN | 2-3 ML | 60 | ||
| 31 | GLA GENİ MUTASYON ANALİZİ | GLA (TÜM GEN) | • FABRY HASTALIİI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 32 | HAE GENİ MUTASYON ANALİZİ | HAE | • FAKTÖR XII | İ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
| 33 | PKU GENİ MUTASYON ANALİZİ | PKU (TÜM GEN) | • FENİLKETONÜRİ HASTALIİI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 34 | PAH GENİ MUTASYON ANALİZİ | PAH GENİ | Fenilketonüri | DİZİ ANALİZİ | EDTALI KAN | 2-3 ML | 21 |
| 35 | FMF MUTASYON ANALİZİ | MEFV | • AİLESEL AKDENİZ ATEİİ | DİZİ ANALİZİ NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
| 36 | FMR1 GENİ CGG TEKRAR ANALİZİ | FMR1 | • FRAJİL X | FRAGMAN ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 37 | G6PD GENİ MUTASYON ANALİZİ | G6PD (TÜM GEN) | • G6PD EKSİKLİİİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 38 | GALK1 GENİ MUTASYON ANALİZİ | GALK1 (TÜM GEN) | • GALAKTOKİNAZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 39 | GALT GENİ MUTASYON ANALİZİ | GALT (TÜM GEN) | • GALAKTOZEMİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 40 | 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 |
| 41 | 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 |
| 42 | SLC37A4 GENİ MUTASYON ANALİZİ | SLC37A4 (TÜM GEN) | • GSD TİP1B/1C | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 43 | F9 GENİ MUTASYON ANALİZİ | F9 (TÜM GEN) | • HEMOFİLİ B HASTALIİI | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 44 | HFE GENİ MUTASYON ANALİZİ | HFE (H63D VE C282Y) | • HEMOKROMATOZİS | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 45 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 10) | • HİPOKONDROPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
| 46 | 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 |
| 47 | GATA3 GENİ MUTASYON ANALİZİ | GATA3 (TÜM GEN) | • HİPOPARATİROİDİZM-SAİIRLIK-RENAL DİSPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 48 | IDUA GENİ MUTASYON ANALİZİ | IDUA (TÜM GEN) | • HUNTER SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 49 | IDS GENİ MUTASYON ANALİZİ | IDS (TÜM GEN) | • HURLER SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 50 | GATA3 GENİ MUTASYON ANALİZİ | GATA3 (TÜM GEN) | • HDR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 51 | MEK1 GENİ MUTASYON ANALİZİ | MEK1 (EKZON 2,3) | • KARDİYOFASYOKUTANÖZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
| 52 | MEK2 GENİ MUTASYON ANALİZİ | MEK2 (EKZON 1, 2, 3) | • KARDİYOFASYOKUTANÖZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 |
| 53 | CFTR GENİ MUTASYON ANALİZİ | CFTR | • KİSTİK FİBROZ | • NGS • FRAGMAN ANALİZİ • DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
| 54 | 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 |
| 55 | CONNEKSİN 26 GENİ MUTASYON ANALİZİ | CONNEKSİN 26 (EKZON 2) | • KONJENİTAL SAİIRLIK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
| 56 | GJB1 GENİ MUTASYON ANALİZİ | GJB1 (TÜM GEN) | • KONJENİTAL SAİIRLIK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
| 57 | 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 |
| 58 | SH2D1A GENİ MUTASYON ANALİZİ | SH2D1A (TÜM GEN) | • LENFOPROLİFERATİF SENDROM | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 21 |
| 59 | FBN1 GENİ MUTASYON ANALİZİ | FBN1 (TÜM GEN) | • MARFAN SENDROMU | NGS | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 60 | ARSA GENİ MUTASYON ANALİZİ | ARSA (TÜM GEN) | • METAKROMATİK LÖKODİSTROFİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 61 | IDS GENİ MUTASYON ANALİZİ | IDS (TÜM GEN) | • MUKOPOLİSAKKARİDOZİS TİP II | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 62 | GALNS GENİ MUTASYON ANALİZİ | GALNS (TÜM GEN) | • MUKOPOLİSAKKARİDOZİS TİP IVA | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 63 | SMPD GENİ MUTASYON ANALİZİ | SMPD (TÜM GEN) | • NİEMANN-PİCK SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 64 | ELA2 GENİ MUTASYON ANALİZİ | ELA2 (TÜM GEN) | • NÖTROPENİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 65 | CLCN7 GENİ MUTASYON ANALİZİ | CLCN7 (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 66 | OSTM1 GENİ MUTASYON ANALİZİ | OSTM1 (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 67 | TCIRG GENİ MUTASYON ANALİZİ | TCIRG (TÜM GEN) | • OSTEOPETROZİS | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 68 | DOK7 GENİ MUTASYON ANALİZİ | DOK7 (TÜM GEN) | • PENA SHOKEİR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 69 | RAPSN GENİ MUTASYON ANALİZİ | RAPSN (TÜM GEN) | • PENA SHOKEİR SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 70 | MECP2 GENİ MUTASYON ANALİZİ | MECP2 (TÜM GEN) | • RETT SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 71 | SBDS GENİ MUTASYON ANALİZİ | SBDS (TÜM GEN) | • SHWACHMAN-DİAMOND SENDROMU | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 72 | NEU1 GENİ MUTASYON ANALİZİ | NEU1 (TÜM GEN) | • SİALİDAZ (NÖROMİNİDAZ) | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 30 |
| 73 | DHCR7 GENİ MUTASYON ANALİZİ | DHCR7 (TÜM GEN) | • SMİTH-LEMLİ-OPİTZ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 45 |
| 74 | 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 |
| 75 | SMA TAİIYICILIK | SMN1-2 | • SPİNAL MUSKÜLER ATROFİ (SMA) TAİIYICILIK | REAL-TIME PCR | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 76 | FGFR3 GENİ MUTASYON ANALİZİ | FGFR3 (EKZON 10, 15) | • TANATOFORİK DİSPLAZİ | DİZİ ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 10 |
| 77 | 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 |
| 78 | ACE GENİ MUTASYON ANALİZİ | ACE | • KARDİYOVASKÜLER RİSK | JEL ELEKTROFOREZİ | EDTA'LI KAN | 2-3ML | 10 |
| 79 | ALFA-1-ANTİTRİPSİN EKSİKLİİİ | PROTEAZ İNHİBİTÖRÜ (Pİ) | • ALFA-1-ANTİTRİPSİN EKSİKLİİİ (AAT) | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 80 | APOE GENİ ALLEL ANALİZİ | APOE | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 81 | FGB GENİ MUTASYON ANALİZİ | FGB (BETA-FİBRİNOJEN) (455G>A) | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 82 | HLA GENİ MUTASYON ANALİZİ | HLA (DQ2, DQ8) | • ÇÖLYAK HASTALIİI – GLUTEN İNTOLERANSI | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
| 83 | FAKTÖR II GENİ MUTASYON ANALİZİ | FAKTÖR II (PROTROMBİN) | • KARDİYOVASKÜLER RİSK - FII EKSİKLİİİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 84 | FAKTÖR V MUTASYON ANALİZİ | FAKTÖR V (H1299R) | • KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 7 |
| 85 | FAKTÖR V LEİDEN MUTASYON ANALİZİ | FAKTÖR V | • KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 86 | FAKTÖR XIII MUTASYON ANALİZİ | FAKTÖR XIII (V34L) | • KARDİYOVASKÜLER RİSK - FXIII EKSİKLİİİ | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
| 87 | FSHB GENİ MUTASYON ANALİZİ | FSHB (211G>T) | • İNFERTİLİTE | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 15 |
| 88 | DNA KİMLİKLENDİRME (FREEZING ONCESI) | FRAGMAN ANALİZİ | EDTA'LI KAN | 2-3ML | 15 | ||
| 89 | HLAB27 GENİ MUTASYON ANALİZİ | HLAB27 | • OTOİMMUN HASTALIKLAR | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 10 |
| 90 | HLA-B5 GENİ MUTASYON ANALİZİ | HLA-B5 | Behçet Hastalİİİ | ||||
| 91 | HPA1 GENİ ALLEL ANALİZİ | HPA1 | • KARDİYOVASKÜLER RİSK | DİZİ ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 92 | 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 |
| 93 | OTOİNFLAMATUAR HASTALIKLAR PANELİ | (5-15 GEN) | OTOİNFLAMATUAR HASTALIKLAR | DİZİ ANALİZİ | EDTALI KAN | 5 ML | 60 |
| 94 | MATERNAL KONTAMİNASYON TESTİ | • KONTAMİNASYON ELİMİNASYONU | FRAGMAN ANALİZİ | EDTA'LI KAN + ABORT/AS/CVS | 2-3ML/5-20ML/2-3MG | 15 | |
| 95 | MTHFR GENİ MUTASYON ANALİZİ | MTHFR (A1298C) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 96 | MTHFR GENİ MUTASYON ANALİZİ | MTHFR (C677T) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 97 | PAI-1 GENİ MUTASYON ANALİZİ | PAI-1 (4G/5G) | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 98 | TROMBOFİLİ PANELİ | FAKTÖR II, FAKTÖR V, MTHFR C677T, MTHFR A1298C | • KARDİYOVASKÜLER RİSK | REAL-TIME PCR | EDTA'LI KAN | 2-3ML | 7 |
| 99 | Y KROMOZOM MİKRODELESYONU | Y KROMOZOMU (24 STR) | • İNFERTİLİTE | FRAGMAN ANALİZİ | EDTA'LI KAN | 2-3ML | 10 |
| 100 | 13, 18, 21, X VE Y KROMOZOMU HIZLI FISH | 13, 18, 21, X VE Y KROMOZOMU | • KROMOZOMAL HASTALIK İÜPHESİ • İNFERTİLİTE | FISH ANALİZİ | EDTA'LI KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 3 |
| 101 | SPERM FISH | 13, 18, 21, X VE Y KROMOZOMU | • İNFERTİLİTE | FISH ANALİZİ | KONSANTRE SPERM | 3-5 | |
| 102 | SPERM DNA FRAGMANTASYONU ANALİZİ | İNFERTİLİTE | TUNNEL TESTİ | KONSANTRE SPERM | 15 | ||
| 103 | MİKRODELESYON FISH - ALAGİLLE | JAG1 (20p12.2) | • ALAGİLLE SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 104 | MİKRODELESYON FISH - CRİ-DU-CHAT | 5p15.2 | • CRİ-DU-CHAT SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 105 | MİKRODELESYON FISH - DİGEORGE/VCFS | TUPLE1 (22q11.2) | • DİGEORGE/VCFS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 106 | MİKRODELESYON FISH - DİYAFRAGMA HERNİSİ | IGF1R (15q26) | • KONJENİTAL DİYAFRAGMATİK HERNİ | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 107 | MİKRODELESYON FISH - KALLMANN | KAL1 (Xp22.3) | • KALLMANN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 108 | MİKRODELESYON FISH - NÖROFİBROMATOZİS | NF1 (17q11.2) | • NÖROFİBROMATOZİS TİP 1 | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 109 | 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 |
| 110 | MİKRODELESYON FISH - SMİTH-MAGENİS | RAI1 (17p11.2) | • SMİTH-MAGENİS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 111 | MİKRODELESYON FISH - SOTOS | NSD1 (5q35) | • SOTOS SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 112 | MİKRODELESYON FISH - WİLLİAMS-BEUREN | ELN (7q11.23) | • WİLLİAMS-BEUREN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 113 | MİKRODELESYON FISH - WOLF-HİRSCHHORN | WHSC (4516.3) | • WOLF-HİRSCHHORN SENDROMU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 114 | MİKRODELESYON FISH - X İNAKTİVASYONU | XIST (Xq13.2) | • X İNAKTİVASYONU | FISH ANALİZİ | HEPARİNLİ KAN/AS/CVS | 2-3ML/5-20ML/2-3MG | 7 |
| 115 | KİMERİZM ANALİZİ - FISH ANALİZİ İLE | • NAKİL SONRASI TRANSPLANTASYON BAİARISI | FISH ANALİZİ | KAN (HEPARİN) / KEMİK İLİİİ (HEPARİN) | 2-3 ML | 3-5 | |
| 116 | KEMİK İLİİİ (Kİ) TRANSPLANTASYONU SONRASI | • NAKİL SONRASI TRANSPLANTASYON BAİARISI | MOLEKÜLER | KAN (EDTALI) /KEMİK İLİİİ (EDTALI) | 2-3 ML | 3-5 | |
| 117 | FISH ANALİZİ - EML4/ALK | EML4/ALK | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 118 | FISH ANALİZİ - 1p/19q DELESYONLARI | 1p36 & 19q13 | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 119 | FISH ANALİZİ - ATM TRANSLOKASYON | ATM (11q22.3) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 120 | FISH ANALİZİ - RB1 DELESYON | RB1 (13q14) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 121 | FISH ANALİZİ - 13q14.3 DELESYON | D13S319 (13q14.3) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), | 2-3 ML | 7 |
| 122 | FISH ANALİZİ - LAMp1 TRANSLOKASYON | LAMp1 (13q34) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN) | 2-3 ML | 7 |
| 123 | FISH ANALİZİ - IGH TRANSLOKASYON | IGH (14q32) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 124 | FISH ANALİZİ – IGF1R AMPLİFİKASYON VE DELESYON | IGF1R (15q26) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 2-3 ML | 7 |
| 125 | FISH ANALİZİ - P53 DELESYON | P53 (17p13.1) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 126 | FISH ANALİZİ – RARA TRANSLOKASYON | RARA (17q21) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 127 | FISH ANALİZİ - MALT1 TRANSLOKASYON VE KROMOZOM 18 ANÖPLOİDİSİ | MALT1 (18q21) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), FFPE | 2-3 ML | 7 |
| 128 | FISH ANALİZİ - 20/20q DELESYON | 20q13.2 | • AKUT MYELOİD LÖSEMİ (AML), • MYELODİSPLASTİK SENDROM (MDS), • POLİSİTEMİA VERA (PV) • PROGNOZ VE TEDAVİYE YANIT | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN) | 2-3 ML | 7 |
| 129 | FISH ANALİZİ - AURKA | AURKA (20q13) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
| 130 | FISH ANALİZİ - EGR1 DELESYONU VEYA KROMOZOM 5 ANÖPLOİDİSİ | EGR1 (5q31) | • KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS) | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 131 | FISH ANALİZİ - 7/7q DELESYONU VEYA KROMOZOM 7 ANÖPLOİDİSİ | 7/7q- (7q31) | • KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS) | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 132 | FISH ANALİZİ - C-MYC AMPLİFİKASYON | C-MYC (8q24) | • KANSER, • BARRET ÖZOFAGUS | FISH ANALİZİ | FFPE | 7 | |
| 133 | FISH ANALİZİ - C-MET AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ | C-MET (7q31.2) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
| 134 | C-Kit Analizi | C-Kit (4q12) | Kanser | Dizi Analizi | FFPE | 7 | |
| 135 | FISH ANALİZİ - EGFR AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ | EGFR (7p12) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 136 | FISH ANALİZİ - FIP1L1/PDGFRA TRANSLOKASYON | FIP1L1/PDGFRA (4q12) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 137 | ERBB2 (HER2) Analizi | ERBB2 | Kanser | FISH | FFPE | 7 | |
| 138 | ERBB2 (HER2) Analizi | ERBB2 | Kanser | IHC | FFPE | 7 | |
| 139 | FISH ANALİZİ - HER2/NEU AMPLİFİKASYON VE DELESYON | HER2/NEU (17q11.2-12) (C-ERBB2) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 140 | FISH ANALİZİ - KROMOZOM 12 ANÖPLOİDİSİ | KROMOZOM 12 | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 141 | FISH ANALİZİ - KROMOZOM 8 ANÖPLOİDİSİ | KROMOZOM 8 | • KANSER, • MYELODİSPLASTİK SENDROM (MDS) | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN) | 2-3 ML | 7 |
| 142 | FISH ANALİZİ - N-MYC AMPLİFİKASYONU VE KROMOZOM 2 ANÖPLOİDİSİ | N-MYC (2p24.3) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
| 143 | FISH ANALİZİ - TEL/AML1 TRANSLOKASYON | TEL/AML1 (12q13.2 / 21q22.12) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 144 | FISH ANALİZİ - MLL TRANSLOKASYON | MLL (11q23) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 145 | FISH ANALİZİ - E2A (TCF3) TRANSLOKASYON | E2A (TCF3) (19p13.3) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), FFPE | 2-3 ML | 7 |
| 146 | FISH ANALİZİ - EWSR1 TRANSLOKASYON | EWSR1 (22q12) | • KANSER | FISH ANALİZİ | FFPE | 7 | |
| 147 | FISH ANALİZİ - CCND1/IGH TRANSLOKASYON VE FÜZYON | CCND1/IGH 11q13/14q32 t(11;14) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 148 | FISH ANALİZİ - API2/MALT1 TRANSLOKASYON VE FÜZYON | API2/MALT1 11q21/18q21 t(11;18) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), FFPE | 2-3 ML | 7 |
| 149 | FISH ANALİZİ - IGH/MAF TRANSLOKASYON VE FÜZYON | IGH/MAF 14q32/16q23 t(14;16) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 150 | FISH ANALİZİ - IGH/BCL2 TRANSLOKASYON VE FÜZYON | IGH/BCL2 14q32/18q21 t(14;18) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 151 | FISH ANALİZİ - PML/RARA TRANSLOKASYON VE FÜZYON | PML/RARA 15q22/17q21.1 t(15;17) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 152 | FISH ANALİZİ - CBFB/MYH11 TRANSLOKASYON VE FÜZYON | CBFB (16q22) MYH11 (16p13.1) t(16;16)(p13;q22) | • KANSER, • EOZİNOFİLİK SENDROMLAR | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 153 | FISH ANALİZİ – ALK TRANSLOKASYON VE FÜZYON | ALK (2p23) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 154 | FISH ANALİZİ - IGH/FGFR3 TRANSLOKASYON VE FÜZYON | IGH/FGFR3 4p16.3/14q32.33 t(4;14) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 155 | FISH ANALİZİ - IGH/MYC TRANSLOKASYON VE FÜZYON | MYC/IGH 8q24.21/14q32.33 t(8;14) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), FFPE | 2-3 ML | 7 |
| 156 | FISH ANALİZİ - ETO/AML1 TRANSLOKASYON VE FÜZYON | ETO/AML1 8q21.3/21q22.12 t(8;21) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 157 | FISH ANALİZİ - BCR/ABL TRANSLOKASYON VE FÜZYON | BCR/ABL 22q11.22/9q34.11 t(9;22) | • KANSER | FISH ANALİZİ | KEMİK İLİİİ (HEPARİN), KAN (HEPARİN), FFPE | 2-3 ML | 7 |
| 158 | FISH ANALİZİ - TOp2A AMPLİFİKASYON VE DELESYON | TOP2A (17q21.2) | • KANSER, • İLAÇ TEDAVİSİNE YANIT, • ANTRASİKLİNLER | FISH ANALİZİ | FFPE | 7 | |
| 159 | FISH ANALİZİ - ROS1 TRANSLOKASYON | ROS1 (6q22.1) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 160 | FISH ANALİZİ - PD-L1&2 (CD274) AMPLİFİKASYON VE DELESYON | PD-L1&2 (9p24.1) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | FISH ANALİZİ | FFPE | 7 | |
| 161 | NTRK1/2/3 FISH ANALİZİ | NTRK1/2/3 | Kanser | FISH | FFPE | 7 | |
| 162 | ABL1 GENİ MUTASYON ANALİZİ | ABL1 (EKZON 4, 5, 6) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA), FFPE | 2-3 ML | 15 |
| 163 | ATP7B Geni Dizi Analizi | ATP7B | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 21 | |
| 164 | BTD Geni Dizi Analizi | BTD | Biotinidaz Eksikliİi | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 21 |
| 165 | BRAF GENİ MUTASYON ANALİZİ | BRAF (EKZON 11, 15) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 10 | |
| 166 | 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 |
| 167 | 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 |
| 168 | BRCA1-2 GENİ DELESYON DUBLİKASYON | BRCA1 & BRCA 2 | KANSER | MLPA | KAN (EDTA) | 5 ML | 30 |
| 169 | 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 |
| 170 | EGFR GENİ MUTASYON ANALİZİ | EGFR (EKZON 18, 19, 20, 21) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | REAL-TIME PCR | FFPE KAN (STRECK) | 10 ML | 10 |
| 171 | FLT3 GENİ MUTASYON ANALİZİ | FLT3 İNTERNAL TANDEM DUPLİKASYON (ITD) VE D835 | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA) | 2-3 ML | 10 |
| 172 | HRAS GENİ MUTASYON ANALİZİ | HRAS (EKZON 1, 2) | • KANSER | DİZİ ANALİZİ | FFPE | 10 | |
| 173 | IDH1 GENİ MUTASYON ANALİZİ | IDH1 (EKZON 4) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA) FFPE | 2-3 ML | 10 |
| 174 | IDH2 GENİ MUTASYON ANALİZİ | IDH2 (EKZON 4) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA) FFPE | 2-3 ML | 10 |
| 175 | IDH1/IDH2 GENİ MUTASYON ANALİZİ | IDH1/IDH2 | Kanser | dPCR | FFPE | 7 | |
| 176 | POLE GENİ MUTASYON ANALİZİ | POLE | Kanser | DİZİ ANALİZİ | FFPE | 15 | |
| 177 | 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 | FFPE | 2-3 ML | 10 |
| 178 | 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 İLİİİ (EDTA) | 2-3 ML | 10 |
| 179 | KIT GENİ MUTASYON ANALİZİ | KIT (EKZON 9, 11, 13, 17) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA), FFPE | 2-3 ML | 15 |
| 180 | KİMERİZM ANALİZİ - PCR ANALİZİ İLE (ALICI - VERİCİ) | • KEMİK İLİİİ NAKLİ SONRASI TRANSPLANTASYON BAİARISI | FRAGMAN ANALİZİ | KAN (EDTA) | 2-3 ML | 10 | |
| 181 | KRAS GENİ MUTASYON ANALİZİ | KRAS (TÜM GEN) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | KAN (EDTA), FFPE | 2-3 ML | 21 |
| 182 | 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 |
| 183 | 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 |
| 184 | MİKROSATELLİT İNSTABİLİTESİ (MSI) | DNA STR BÖLGELERİ | • HEREDİTER NONPOLİPOZİS KOLOREKTAL KANSER (HNPCC) MMR GEN ANALİZİ ÖNCESİNDE | FRAGMAN ANALİZİ | KAN (EDTA) FFPE | 2-3 ML | 15 |
| 185 | MPL GENİ MUTASYON ANALİZİ | MPL (W515L/K VE S505N) | • KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • MYELOFİBROZİS İLE GİDEN MYELOİD METAPLAZİ | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA) | 2-3 ML | 10 |
| 186 | NPM1 GENİ MUTASYON ANALİZİ | NPM1 (EKZON 12) | • KANSER | DİZİ ANALİZİ | KAN (EDTA), KEMİK İLİİİ (EDTA) | 2-3 ML | 10 |
| 187 | ESR1 Analizi | ESR1 ( 6q25.1-q25.2) | Kanser | dPCR | FFPE / KAN (STRECK) | 7 | |
| 188 | NÖROFİBROMATOZİS TİP 1 | NF1 Delesyon / Dublikasyon | MLPA | KAN (EDTA) | 5 ML | 30 | |
| 189 | NÖROFİBROMATOZİS TİP 1 | NF1 TGDA | NGS | KAN (EDTA) | 5 ML | 30 | |
| 190 | *NÖROFİBROMATOZİS TİP 2 | NF2 Delesyon / Dublikasyon | MLPA | KAN (EDTA) | 5 ML | 30 | |
| 191 | NÖROFİBROMATOZİS TİP 2 | NF2 TGDA | NGS | KAN (EDTA) | 5 ML | 30 | |
| 192 | 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 |
| 193 | p16 GENİ MUTASYON ANALİZİ | p16 (TÜM GEN ) | • KANSER | DİZİ ANALİZİ | FFPE | 15 | |
| 194 | P53 GENİ MUTASYON ANALİZİ | P53 (EKZON 4, 5, 6, 7, 8, 9) | • Lİ FRAUMENİ SENDROMU TİP I, • KANSER | DİZİ ANALİZİ | FFPE | 15 | |
| 195 | P53 EKSPRESYON ANALİZİ | TP53 | Kanser | IHC | FFPE | 7 | |
| 196 | PDGFRA GENİ MUTASYON ANALİZİ | PDGFRA (12, 18, 19) | • KANSER, • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 15 | |
| 197 | PDGFRB GENİ MUTASYON ANALİZİ | PDGFRB (EKZON 18, 19) | • KANSER • KOSAKİ SENDROMU • İNFANTİL MİYOFİBROMATOZİS | DİZİ ANALİZİ | FFPE | 10 | |
| 198 | PIK3CA GENİ MUTASYON ANALİZİ | PIK3CA (EKZON 9, 20) | • KANSER | DİZİ ANALİZİ | FFPE | 10 | |
| 199 | PTEN GENİ MUTASYON ANALİZİ | PTEN (TÜM GEN) | • KANSER • İLAÇ TEDAVİSİNE YANIT | DİZİ ANALİZİ | FFPE | 21 | |
| 200 | BCR/ABL TRANSLOKASYONU | BCR-ABL t(9;22) | • KANSER | REAL-TIME PCR | KAN (EDTA) KEMİK İLİİİ (EDTA) | 2-3 ML | 10 |
| 201 | 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 |
| 202 | DPYD GENİ MUTASYON ANALİZİ | DPYD (IVS14 + 1G>A, DPYD*2A) | • DPD EKSİKLİİİ • 5-FLUOROURACİL TOKSİSİTESİ | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 203 | UGT1A1 TEKRAR ANALİZİ | UGT1A1*28 (TATA BOX) | • İRİNOTEKAN TOKSİSİTESİ • KALITSAL HİPERBİLİRÜBİNEMİ • GILBERT SENDROMU | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 204 | TSC1-TSC2 Genleri Dizi Analizi | TSC1-TSC2 | Tuberoskleroz | DİZİ ANALİZİ | KAN (EDTA) | 2 - 3 ML | 30 |
| 205 | CALR (Calreticulin) Gen Mutasyon Analizi | CALR | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 | |
| 206 | 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 |
| 207 | GSTM1 MUTASYON ANALİZİ (3 POLİMORFİZM) | GSTM1 | • İLAÇ TOKSİSİTESİ • KANSER RİSK ANALİZİ | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 208 | MGMT metilasyonu | MGMT | Kanser | REAL-TIME PCR | FFPE | 7 | |
| 209 | MLH1 metilasyonu | MLH1 | Kanser | REAL-TIME PCR | FFPE | 7 | |
| 210 | İLAÇ SENSİTİVİTE PANELİ - GENİİ PANEL | CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
| 211 | İLAÇ SENSİTİVİTE PANELİ - STANDART PANEL | CYP2D6, CYP2C9, CYP2C19 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
| 212 | İLAÇ SENSİTİVİTE PANELİ - NÖROPSİKİYATRİ | CYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4 | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 15 |
| 213 | 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 |
| 214 | İLAÇ SENSİTİVİTESİ - VKORC1 GENİ MUTASYON ANALİZİ | VKORC1 (-1639C>A) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 215 | CYP2C19 GENİ MUTASYON ANALİZİ | CYP2C9( *1,*2, *3, *4, *17) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 216 | 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 |
| 217 | CYP1A2 MUTASYON ANALİZİ (2 POLİMORFİZM: CYP1A2 | CYP1A2 (*1C, *1F) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 218 | CYP3A4 MUTASYON ANALİZİ | CYP3A4 (*2) | • İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 219 | 5HTT (SCL6A4) MUTASYON ANALİZİ | SCL6A4 (KISA ALLEL VEYA DELESYON) | • SSRI SENSİTİVİTESİ VE DOZ AYARLAMASI | DİZİ ANALİZİ | KAN (EDTA) | 2-3 ML | 10 |
| 220 | PGT-M: SIK TEK GEN HASTALIKLARI (TALASEMİ, KİSTİK FİBROZİS. SMA, FMF, HLA TİPLEMESİ) AİLE MARKER ÇALIİMASI İÇİN 15 GÜNLÜK SÜREYE İHTİYAÇ VARDIR. | • TALASEMİ: HBA1, HBA2, HBB • KİSTİK FİBROZ: CFTR • SMA: SMN1, SMN2 • FMF: MEFV • HLA TİPLEMESİ: HLA | • TEK GEN HASTALIİI | DİZİ ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA) | 6 HAFTA | |
| 221 | 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 | ||
| 222 | HLA + TEK GEN HASTALIİI (PGT-M) | HLA + TEK GEN HASTALIİI | DİZİ ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA) | 8 HAFTA | ||
| 223 | 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 YAİ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAİARISIZLIİI • İİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
| 224 | EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 7 KROMOZOM | 13, 16, 18, 21, 22, X, Y KROMOZOMLARI | • SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAİ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAİARISIZLIİI • İİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
| 225 | 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 YAİ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAİARISIZLIİI • İİDDETLİ GAMET MORFOLOJİSİ | FISH ANALİZİ | EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 1-2 | |
| 226 | 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 | ||
| 227 | 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 | |
| 228 | 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 YAİ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAİARISIZLIİI • İİDDETLİ GAMET MORFOLOJİSİ | NGS | 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 15 | |
| 229 | EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI – (PGT-A + PGT-SR) | 24 KROMOZOM - TRANSLOKASYON, İNVERSİYON (8Mb VE ALTI) | ANNE VE/VEYA BABADA GÖZLENEN TRANSLOKASYON/INVERSIYON TAİIYICILIİI | NGS | 5. GÜN (TROFEKTODERM) BİYOPSİSİ | 3 HAFTA | |
| 230 | NGS FOCUS 15 | AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53 | KANSER | NGS | FFPE | 3 HAFTA | |
| 231 | 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 | 2-3 HAFTA | |
| 232 | 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 | 2-3 HAFTA | |
| 233 | 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 | 4 HAFTA | |
| 234 | 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 | 2-3 HAFTA | |
| 235 | NGS FOCUS TMB | 1.65 Mb of DNA | KANSER | NGS | FFPE | 4 HAFTA | |
| 236 | 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 | 3-4 HAFTA | |
| 237 | NGS FOCUS OCAPLUS | 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 | 2-3 HAFTA | |
| 238 | NGS FOCUS 500 HRD | NGS FOCUS 500 + HRD SKOR | KANSER | NGS | FFPE | 3-4 HAFTA | |
| 239 | 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 | 3-4 HAFTA |
Испытания, отмеченные (*), аккредитованы TÜRKAK.
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– Содержание этой страницы было отредактировано 13.03.2024.
– Для проведения ПГД при одногенных заболеваниях необходимо установить клинический диагноз заболевания в семье и выявить мутацию с помощью генетического тестирования.
– Если мутация не была выявлена, необходимо дополнительное время для ее выявления путем исследования гена, вызывающего заболевание (в отечественном или зарубежном центре).
– Если мутация была выявлена, перед ЭКО и ПГД обязательно нужно провести обследование на мутации, относящиеся к другой группе заболеваний из нашего списка.
– Наши тесты открыты для приема образцов с 09:00 до 18:00 по будням и с 09:00 до 14:00 по субботам.