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Sİra No.Test İsmiGen/BölgeEndikasyonAnaliz YöntemiÖrnek TipiMiktar
(min)
Rapor
Tarihi (gün)
1KROMOZOM ANALİZİ - KAN24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI
• İNFERTİLİTE
HÜCRE KÜLTÜRÜPERİFERİK KAN (HEPARİNLİ) / KEMİK İLİİİ2-3 ML15
2KROMOZOM ANALİZİ - AMNİYON SIVISI24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• PATOLOJİK USG
• MATERNAL YAİ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜAMNİYON SIVISI15-20ML21
3KROMOZOM ANALİZİ - CVS24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• PATOLOJİK USG
• MATERNAL YAİ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORYONİK VİLLUS2-3 ADET VİLLUS (2-3MG)21
4KROMOZOM ANALİZİ - KORD24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• PATOLOJİK USG
• MATERNAL YAİ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORD KANI (HEPARİNLİ)2-3ML7
5KROMOZOM ANALİZİ - ABORTUS24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• TEKRARLAYAN GEBELİK KAYIPLARI
HÜCRE KÜLTÜRÜABORTUS MATERYALİ30-50İG21
6KROMOZOM ANALİZİ - CİLT DOKUSU24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI
• İNFERTİLİTE
HÜCRE KÜLTÜRÜCİLT DOKUSU30-50İG21
7KROMOZOM ANALİZİ + HIZLI FISH - AMNİYON SIVISI24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• PATOLOJİK USG
• MATERNAL YAİ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜAMNİYON SIVISI15-20ML2 + 21
8KROMOZOM ANALİZİ + HIZLI FISH - CVS24 KROMOZOM• KROMOZOMAL HASTALIK İÜPHESİ
• PATOLOJİK USG
• MATERNAL YAİ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORYONİK VİLLUS2-3MG2 + 21
9MOLEKÜLER GENETİK - MOLEKÜLER KARYOTİPLEME24 KromozomİNFERTİLİTE DÜİÜK TEKRARLI DÜİÜK TANIMLANAMAMIİ GENETİK HASTALIK MULTİPLE KONJENİTAL ANOMALİACGHEDTA'LI KAN /AS/CVS/ABORT2-3ML/5-20ML/2-3MG15
10SRD5A2 GENİ MUTASYON ANALİZİSRD5A2 (TÜM GEN)• 5İ-REDÜKTAZ EKSİKLİİİ TİP 2DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
11ADA GENİ MUTASYON ANALİZİADA (TÜM GEN)• ADENOZİN DEAMİNAZ EKSİKLİİİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
12FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 9,10,13,15)• AKONDROPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
13HBA1 & HBA2 GENİ MUTASYON ANALİZİHBA1, HBA2• ALFA TALASEMİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
14SOD1 GENİ MUTASYON ANALİZİSOD1 (TÜM GEN)• AMYOTROFİK LATERAL SKLEROZİS (ALS)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
15HBB GENİ MUTASYON ANALİZİHBB (TÜM GEN)• BETA TALASEMİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
16HLA-DQ2, HLA-DQ8HLA-DQ2, HLA-DQ8Çölyak Hastalİİİ
17RPS19 GENİ MUTASYON ANALİZİRPS19 (TÜM GEN)• BLACKFAN-DIAMOND ANEMİSİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
18NOTCH3 GENİ MUTASYON ANALİZİNOTCH3 (EKZON 3,4)• CADASILDİZİ ANALİZİEDTA'LI KAN2-3ML15
19NOTCH3 GENİ MUTASYON ANALİZİNOTCH3 (EKZON 3,4,11,18,19)• CADASILDİZİ ANALİZİEDTA'LI KAN2-3ML30
20ASPA GENİ MUTASYON ANALİZİASPA (TÜM GEN)• CANAVANDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
21MPZ GENİ MUTASYON ANALİZİMPZ (TÜM GEN)• CHARCOT-MARİE-TOOTHDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
22 PTPN11 GEN DİZİ ANALİZİ PTPN11 Geni Dizi AnaliziNoonan SendromuDİZİ ANALİZİKAN (EDTA)2-3 ML30
23RASOPATİ PANELİ(NOONAN, COTESLLO, CARDİOFASCİOCUTANÖZ SENDROMDİZİ ANALİZİKAN (EDTA)2-3 ML60
24PMP22 GENİ MUTASYON ANALİZİPMP22 (TÜM GEN)• CHARCOT-MARİE-TOOTH 1A (CMT1A)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
25PMP22 GENİ DUPLİKASYON ANALİZİPMP22• CHARCOT-MARİE-TOOTH (CMT1A)FRAGMAN ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
26CRLF1 GENİ MUTASYON ANALİZİCRLF1 (TÜM GEN)• COLD-INDUCED SWEATİNG SENDROMU TİP 1DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
27TOR1A1 GENİ GAG DELESYON ANALİZİTOR1A1• DİSTONİA (DYT1)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
28DİSTROFİN GENİ MUTASYON ANALİZİDİSTROFİN (79 EKZON)• DMD/BMDMLPAEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
29TÜM EKZOM SEKANSLAMA (WES)TÜM EKZOM• EKZOM SEKANSLAMANGSEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG60
30MODY TEST PANELİMODY (21 GEN)21 GEN2-3 ML60
31GLA GENİ MUTASYON ANALİZİ GLA (TÜM GEN)• FABRY HASTALIİIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
32HAE GENİ MUTASYON ANALİZİHAE• FAKTÖR XIIİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
33PKU GENİ MUTASYON ANALİZİPKU (TÜM GEN)• FENİLKETONÜRİ HASTALIİIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
34PAH GENİ MUTASYON ANALİZİPAH GENİFenilketonüriDİZİ ANALİZİEDTALI KAN2-3 ML21
35FMF MUTASYON ANALİZİMEFV• AİLESEL AKDENİZ ATEİİDİZİ ANALİZİ
NGS
EDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
36FMR1 GENİ CGG TEKRAR ANALİZİFMR1• FRAJİL XFRAGMAN ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
37G6PD GENİ MUTASYON ANALİZİG6PD (TÜM GEN)• G6PD EKSİKLİİİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
38GALK1 GENİ MUTASYON ANALİZİGALK1 (TÜM GEN)• GALAKTOKİNAZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
39GALT GENİ MUTASYON ANALİZİGALT (TÜM GEN)• GALAKTOZEMİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
40 RAB27A GENİ MUTASYON ANALİZİ RAB27A (TÜM GEN)• GRİSCELLİ SENDROMU TİP 2DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
41G6PC GENİ MUTASYON ANALİZİG6PC (TÜM GEN)• GSD TİP1A (VON GİERKE)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
42SLC37A4 GENİ MUTASYON ANALİZİSLC37A4 (TÜM GEN)• GSD TİP1B/1CDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
43F9 GENİ MUTASYON ANALİZİF9 (TÜM GEN)• HEMOFİLİ B HASTALIİIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
44HFE GENİ MUTASYON ANALİZİHFE (H63D VE C282Y)• HEMOKROMATOZİSDİZİ ANALİZİEDTA'LI KAN2-3ML10
45FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 10)• HİPOKONDROPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
46FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 9,10,13,15)• HİPOKONDROPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
47GATA3 GENİ MUTASYON ANALİZİGATA3 (TÜM GEN)• HİPOPARATİROİDİZM-SAİIRLIK-RENAL DİSPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
48IDUA GENİ MUTASYON ANALİZİIDUA (TÜM GEN)• HUNTER SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
49 IDS GENİ MUTASYON ANALİZİ IDS (TÜM GEN)• HURLER SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
50GATA3 GENİ MUTASYON ANALİZİGATA3 (TÜM GEN)• HDR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
51MEK1 GENİ MUTASYON ANALİZİMEK1 (EKZON 2,3)• KARDİYOFASYOKUTANÖZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
52MEK2 GENİ MUTASYON ANALİZİMEK2 (EKZON 1, 2, 3)• KARDİYOFASYOKUTANÖZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
53CFTR GENİ MUTASYON ANALİZİCFTR• KİSTİK FİBROZ• NGS
• FRAGMAN ANALİZİ
• DİZİ ANALİZİ
EDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
54CHRNE GENİ MUTASYON ANALİZİCHRNE (EKZON 11, 12)• KONJENİTAL MYASTENİK SENDROMDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
55CONNEKSİN 26 GENİ MUTASYON ANALİZİCONNEKSİN 26 (EKZON 2)• KONJENİTAL SAİIRLIKDİZİ ANALİZİEDTA'LI KAN2-3ML15
56GJB1 GENİ MUTASYON ANALİZİGJB1 (TÜM GEN)• KONJENİTAL SAİIRLIKDİZİ ANALİZİEDTA'LI KAN2-3ML15
57MTND GENİ MUTASYON ANALİZİ (A52T, R340H, M64V)MTND• LEBER HEREDITER OPTİK NÖROPATİ (LHON) MUTASYON ANALİZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
58SH2D1A GENİ MUTASYON ANALİZİ SH2D1A (TÜM GEN)• LENFOPROLİFERATİF SENDROMDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
59FBN1 GENİ MUTASYON ANALİZİFBN1 (TÜM GEN)• MARFAN SENDROMUNGSEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
60ARSA GENİ MUTASYON ANALİZİARSA (TÜM GEN)• METAKROMATİK LÖKODİSTROFİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
61IDS GENİ MUTASYON ANALİZİIDS (TÜM GEN)• MUKOPOLİSAKKARİDOZİS TİP IIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
62GALNS GENİ MUTASYON ANALİZİGALNS (TÜM GEN)• MUKOPOLİSAKKARİDOZİS TİP IVADİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
63SMPD GENİ MUTASYON ANALİZİSMPD (TÜM GEN)• NİEMANN-PİCK SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
64ELA2 GENİ MUTASYON ANALİZİELA2 (TÜM GEN)• NÖTROPENİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
65CLCN7 GENİ MUTASYON ANALİZİCLCN7 (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
66OSTM1 GENİ MUTASYON ANALİZİOSTM1 (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
67TCIRG GENİ MUTASYON ANALİZİTCIRG (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
68DOK7 GENİ MUTASYON ANALİZİDOK7 (TÜM GEN)• PENA SHOKEİR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
69RAPSN GENİ MUTASYON ANALİZİRAPSN (TÜM GEN)• PENA SHOKEİR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
70MECP2 GENİ MUTASYON ANALİZİMECP2 (TÜM GEN)• RETT SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
71SBDS GENİ MUTASYON ANALİZİSBDS (TÜM GEN)• SHWACHMAN-DİAMOND SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
72NEU1 GENİ MUTASYON ANALİZİNEU1 (TÜM GEN)• SİALİDAZ (NÖROMİNİDAZ)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
73DHCR7 GENİ MUTASYON ANALİZİDHCR7 (TÜM GEN)• SMİTH-LEMLİ-OPİTZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG45
74SMN1-2 GENİ MUTASYON ANALİZİ (DELESYON & DUPLİKASYON)SMN1-2• SPİNAL MUSKÜLER ATROFİ (SMA)MLPAEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG14
75SMA TAİIYICILIKSMN1-2• SPİNAL MUSKÜLER ATROFİ (SMA) TAİIYICILIKREAL-TIME PCREDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG7
76FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 10, 15)• TANATOFORİK DİSPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
77ACTA2 GENİ MUTASYON ANALİZİACTA2 (TÜM GEN)• TORASİK AORTİK ANEVRİZMA AORTİK DİSEKSİYON TİP 4DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
78ACE GENİ MUTASYON ANALİZİACE• KARDİYOVASKÜLER RİSKJEL ELEKTROFOREZİEDTA'LI KAN2-3ML10
79ALFA-1-ANTİTRİPSİN EKSİKLİİİPROTEAZ İNHİBİTÖRÜ (Pİ)• ALFA-1-ANTİTRİPSİN EKSİKLİİİ (AAT)DİZİ ANALİZİEDTA'LI KAN2-3ML10
80APOE GENİ ALLEL ANALİZİAPOE• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
81FGB GENİ MUTASYON ANALİZİFGB (BETA-FİBRİNOJEN) (455G>A)• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
82HLA GENİ MUTASYON ANALİZİHLA (DQ2, DQ8)• ÇÖLYAK HASTALIİI – GLUTEN İNTOLERANSIREAL-TIME PCREDTA'LI KAN2-3ML10
83FAKTÖR II GENİ MUTASYON ANALİZİFAKTÖR II (PROTROMBİN)• KARDİYOVASKÜLER RİSK - FII EKSİKLİİİREAL-TIME PCREDTA'LI KAN2-3ML7
84FAKTÖR V MUTASYON ANALİZİFAKTÖR V (H1299R)• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİDİZİ ANALİZİEDTA'LI KAN2-3ML7
85FAKTÖR V LEİDEN MUTASYON ANALİZİFAKTÖR V• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİREAL-TIME PCREDTA'LI KAN2-3ML7
86FAKTÖR XIII MUTASYON ANALİZİFAKTÖR XIII (V34L)• KARDİYOVASKÜLER RİSK - FXIII EKSİKLİİİREAL-TIME PCREDTA'LI KAN2-3ML10
87FSHB GENİ MUTASYON ANALİZİFSHB (211G>T)• İNFERTİLİTEDİZİ ANALİZİEDTA'LI KAN2-3ML15
88DNA KİMLİKLENDİRME (FREEZING ONCESI)FRAGMAN ANALİZİEDTA'LI KAN2-3ML15
89HLAB27 GENİ MUTASYON ANALİZİHLAB27• OTOİMMUN HASTALIKLARREAL-TIME PCREDTA'LI KAN2-3ML10
90HLA-B5 GENİ MUTASYON ANALİZİHLA-B5Behçet Hastalİİİ
91HPA1 GENİ ALLEL ANALİZİHPA1• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
92KARDİYOVASKÜLER RİSK PANELİ (12 MUTASYON)FGB, HPA1, ACE, APOE, APOV, F13, F2, F5 LEIDEN, MTHFR A1298C, MTHFR C677T, PAI• KARDİYOVASKÜLER RİSKDİZİ ANALİZİ + REAL-TIME PCREDTA'LI KAN2-3ML15
93OTOİNFLAMATUAR HASTALIKLAR PANELİ(5-15 GEN)OTOİNFLAMATUAR HASTALIKLARDİZİ ANALİZİEDTALI KAN5 ML60
94MATERNAL KONTAMİNASYON TESTİ• KONTAMİNASYON ELİMİNASYONUFRAGMAN ANALİZİEDTA'LI KAN + ABORT/AS/CVS2-3ML/5-20ML/2-3MG15
95MTHFR GENİ MUTASYON ANALİZİMTHFR (A1298C)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
96MTHFR GENİ MUTASYON ANALİZİMTHFR (C677T)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
97PAI-1 GENİ MUTASYON ANALİZİPAI-1 (4G/5G)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
98TROMBOFİLİ PANELİFAKTÖR II, FAKTÖR V, MTHFR C677T, MTHFR A1298C• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
99Y KROMOZOM MİKRODELESYONUY KROMOZOMU (24 STR)• İNFERTİLİTEFRAGMAN ANALİZİEDTA'LI KAN2-3ML10
10013, 18, 21, X VE Y KROMOZOMU HIZLI FISH13, 18, 21, X VE Y KROMOZOMU• KROMOZOMAL HASTALIK İÜPHESİ
• İNFERTİLİTE
FISH ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG3
101SPERM FISH13, 18, 21, X VE Y KROMOZOMU• İNFERTİLİTEFISH ANALİZİKONSANTRE SPERM3-5
102SPERM DNA FRAGMANTASYONU ANALİZİİNFERTİLİTETUNNEL TESTİKONSANTRE SPERM15
103MİKRODELESYON FISH - ALAGİLLEJAG1 (20p12.2)• ALAGİLLE SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
104MİKRODELESYON FISH -
CRİ-DU-CHAT
5p15.2• CRİ-DU-CHAT SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
105MİKRODELESYON FISH - DİGEORGE/VCFSTUPLE1 (22q11.2)• DİGEORGE/VCFS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
106MİKRODELESYON FISH - DİYAFRAGMA HERNİSİIGF1R (15q26)• KONJENİTAL DİYAFRAGMATİK HERNİFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
107MİKRODELESYON FISH - KALLMANNKAL1 (Xp22.3)• KALLMANN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
108MİKRODELESYON FISH - NÖROFİBROMATOZİSNF1 (17q11.2)• NÖROFİBROMATOZİS TİP 1FISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
109MİKRODELESYON FISH -
PRADER-WİLLİ/ANGELMAN
SNRPN (15q11.2)• PRADER-WİLLİ/ANGELMAN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
110MİKRODELESYON FISH -
SMİTH-MAGENİS
RAI1 (17p11.2)• SMİTH-MAGENİS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
111MİKRODELESYON FISH -
SOTOS
NSD1 (5q35)• SOTOS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
112MİKRODELESYON FISH - WİLLİAMS-BEURENELN (7q11.23)• WİLLİAMS-BEUREN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
113MİKRODELESYON FISH -
WOLF-HİRSCHHORN
WHSC (4516.3)• WOLF-HİRSCHHORN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
114MİKRODELESYON FISH -
X İNAKTİVASYONU
XIST (Xq13.2)• X İNAKTİVASYONUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
115KİMERİZM ANALİZİ - FISH ANALİZİ İLE• NAKİL SONRASI TRANSPLANTASYON BAİARISIFISH ANALİZİKAN (HEPARİN) / KEMİK İLİİİ (HEPARİN)2-3 ML3-5
116KEMİK İLİİİ (Kİ) TRANSPLANTASYONU SONRASI• NAKİL SONRASI TRANSPLANTASYON BAİARISIMOLEKÜLERKAN (EDTALI) /KEMİK İLİİİ (EDTALI)2-3 ML3-5
117FISH ANALİZİ - EML4/ALKEML4/ALK• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
118FISH ANALİZİ - 1p/19q DELESYONLARI1p36 & 19q13• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
119FISH ANALİZİ - ATM TRANSLOKASYONATM (11q22.3)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
120FISH ANALİZİ - RB1
DELESYON
RB1 (13q14)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
121FISH ANALİZİ - 13q14.3
DELESYON
D13S319 (13q14.3)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
2-3 ML7
122FISH ANALİZİ - LAMp1
TRANSLOKASYON
LAMp1 (13q34)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN)
2-3 ML7
123FISH ANALİZİ - IGH TRANSLOKASYONIGH (14q32)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
124FISH ANALİZİ – IGF1R
AMPLİFİKASYON VE DELESYON
IGF1R (15q26)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE2-3 ML7
125FISH ANALİZİ - P53
DELESYON
P53 (17p13.1)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
126FISH ANALİZİ – RARA
TRANSLOKASYON
RARA (17q21)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
127FISH ANALİZİ - MALT1
TRANSLOKASYON VE KROMOZOM 18 ANÖPLOİDİSİ
MALT1 (18q21)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
FFPE
2-3 ML7
128FISH ANALİZİ - 20/20q DELESYON20q13.2• AKUT MYELOİD LÖSEMİ (AML),
• MYELODİSPLASTİK SENDROM (MDS),
• POLİSİTEMİA VERA (PV)
• PROGNOZ VE TEDAVİYE YANIT
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN)
2-3 ML7
129FISH ANALİZİ - AURKAAURKA (20q13)• KANSERFISH ANALİZİFFPE7
130FISH ANALİZİ - EGR1
DELESYONU VEYA KROMOZOM 5 ANÖPLOİDİSİ
EGR1 (5q31)• KANSER,
• MYELODİSPLASTİK SENDROMLAR (MDS)
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
131FISH ANALİZİ - 7/7q DELESYONU VEYA KROMOZOM 7 ANÖPLOİDİSİ7/7q- (7q31)• KANSER,
• MYELODİSPLASTİK SENDROMLAR (MDS)
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
132FISH ANALİZİ - C-MYC
AMPLİFİKASYON
C-MYC (8q24)• KANSER,
• BARRET ÖZOFAGUS
FISH ANALİZİFFPE7
133FISH ANALİZİ - C-MET
AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ
C-MET (7q31.2)• KANSERFISH ANALİZİFFPE7
134FISH ANALİZİ - EGFR AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİEGFR (7p12)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
135FISH ANALİZİ - FIP1L1/PDGFRA
TRANSLOKASYON
FIP1L1/PDGFRA (4q12)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
136FISH ANALİZİ - HER2/NEU
AMPLİFİKASYON VE DELESYON
HER2/NEU (17q11.2-12)
(C-ERBB2)
• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
137FISH ANALİZİ - KROMOZOM 12 ANÖPLOİDİSİKROMOZOM 12• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
138FISH ANALİZİ - KROMOZOM 8 ANÖPLOİDİSİKROMOZOM 8• KANSER,
• MYELODİSPLASTİK SENDROM (MDS)
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN)
2-3 ML7
139FISH ANALİZİ - N-MYC AMPLİFİKASYONU VE KROMOZOM 2 ANÖPLOİDİSİN-MYC (2p24.3)• KANSERFISH ANALİZİFFPE7
140FISH ANALİZİ - TEL/AML1 TRANSLOKASYONTEL/AML1
(12q13.2 / 21q22.12)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
141FISH ANALİZİ - MLL
TRANSLOKASYON
MLL (11q23)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
142FISH ANALİZİ - E2A (TCF3)
TRANSLOKASYON
E2A (TCF3) (19p13.3)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
FFPE
2-3 ML7
143FISH ANALİZİ - EWSR1 TRANSLOKASYONEWSR1 (22q12)• KANSERFISH ANALİZİFFPE7
144FISH ANALİZİ - CCND1/IGH TRANSLOKASYON VE FÜZYONCCND1/IGH
11q13/14q32
t(11;14)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
145FISH ANALİZİ - API2/MALT1 TRANSLOKASYON VE FÜZYONAPI2/MALT1
11q21/18q21
t(11;18)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
FFPE
2-3 ML7
146FISH ANALİZİ - IGH/MAF TRANSLOKASYON VE FÜZYONIGH/MAF
14q32/16q23
t(14;16)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
147FISH ANALİZİ - IGH/BCL2 TRANSLOKASYON VE FÜZYONIGH/BCL2
14q32/18q21
t(14;18)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
148FISH ANALİZİ - PML/RARA TRANSLOKASYON VE FÜZYONPML/RARA
15q22/17q21.1
t(15;17)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
149FISH ANALİZİ - CBFB/MYH11 TRANSLOKASYON VE FÜZYONCBFB (16q22)
MYH11 (16p13.1)
t(16;16)(p13;q22)
• KANSER,
• EOZİNOFİLİK SENDROMLAR
FISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
150FISH ANALİZİ – ALK TRANSLOKASYON VE FÜZYONALK (2p23)• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
151FISH ANALİZİ - IGH/FGFR3 TRANSLOKASYON VE FÜZYONIGH/FGFR3
4p16.3/14q32.33
t(4;14)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
152FISH ANALİZİ - IGH/MYC TRANSLOKASYON VE FÜZYONMYC/IGH
8q24.21/14q32.33
t(8;14)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
FFPE
2-3 ML7
153FISH ANALİZİ - ETO/AML1 TRANSLOKASYON VE FÜZYONETO/AML1
8q21.3/21q22.12
t(8;21)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
154FISH ANALİZİ - BCR/ABL
TRANSLOKASYON VE FÜZYON
BCR/ABL
22q11.22/9q34.11
t(9;22)
• KANSERFISH ANALİZİKEMİK İLİİİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
155FISH ANALİZİ - TOp2A AMPLİFİKASYON VE DELESYONTOP2A (17q21.2)• KANSER,
• İLAÇ TEDAVİSİNE YANIT,
• ANTRASİKLİNLER
FISH ANALİZİFFPE7
156FISH ANALİZİ - ROS1
TRANSLOKASYON
ROS1 (6q22.1)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
157FISH ANALİZİ - PD-L1&2 (CD274) AMPLİFİKASYON VE DELESYONPD-L1&2 (9p24.1)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
158ABL1 GENİ MUTASYON ANALİZİABL1 (EKZON 4, 5, 6)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA), FFPE
2-3 ML15
159ATP7B Geni Dizi AnaliziATP7BDİZİ ANALİZİKAN (EDTA)2-3 ML21
160BTD Geni Dizi AnaliziBTDBiotinidaz EksikliİiDİZİ ANALİZİKAN (EDTA)2-3 ML21
161BRAF GENİ MUTASYON ANALİZİBRAF (EKZON 11, 15)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE10
162BRAF + NRAS GENİ MUTASYON ANALİZİBRAF (EKZON 11, 15)
+
NRAS (EKZON 1, 2, 3)
• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK)
FFPE
10 ML10
163BRCA1 - BRCA2 GENİ MUTASYON ANALİZİBRCA1 (TÜM GEN)
BRCA2 (TÜM GEN)
• KANSER
• KANSER YATKINLIK
• İLAÇ TEDAVİSİNE YANIT
NGSKAN (EDTA),
FFPE
2-3 ML45
164BRCA1-2 GENİ DELESYON DUBLİKASYONBRCA1 & BRCA 2KANSERMLPAKAN (EDTA)5 ML30
165CHEK2 GENİ MUTASYON ANALİZİCHEK2 (EKZON 9, 10)• KANSER,
• Lİ-FRAUMENİ SENDROMU TİP II,
• İLAÇ TEDAVİSİNE YANIT,
• ANTRASİKLİNLER
DİZİ ANALİZİKAN (EDTA),
FFPE
2-3 ML10
166EGFR GENİ MUTASYON ANALİZİEGFR (EKZON 18, 19, 20, 21)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRFFPE
KAN (STRECK)
10 ML10
167FLT3 GENİ MUTASYON ANALİZİFLT3 İNTERNAL TANDEM DUPLİKASYON (ITD) VE D835• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
2-3 ML10
168HRAS GENİ MUTASYON ANALİZİHRAS (EKZON 1, 2)• KANSERDİZİ ANALİZİFFPE10
169IDH1 GENİ MUTASYON ANALİZİIDH1 (EKZON 4)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
FFPE
2-3 ML10
170IDH2 GENİ MUTASYON ANALİZİIDH2 (EKZON 4)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
FFPE
2-3 ML10
171JAK2 GENİ MUTASYON ANALİZİJAK2 (V617F)• KANSER,
• ESANSİYEL TROMBOSİTEMİ (ET),
• HİPEREOZİNOFİLİK SENDROM (HES),
• MYELODİSPLASTİK SENDROMLAR (MDS),
• POLİSİTEMİA VERA (PV),
• İLAÇ TEDAVİSİNE YANIT,
• RELAPS İZLEMİ
REAL-TIME PCRKAN (EDTA),
KEMİK İLİİİ (EDTA)
2-3 ML10
172JAK2 GENİ MUTASYON ANALİZİJAK2 (EKZON 12)• KANSER,
• ESANSİYEL TROMBOSİTEMİ (ET),
• HİPEREOZİNOFİLİK SENDROM (HES),
• MYELODİSPLASTİK SENDROMLAR (MDS),
• POLİSİTEMİA VERA (PV),
• İLAÇ TEDAVİSİNE YANIT,
• RELAPS İZLEMİ
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
2-3 ML10
173KIT GENİ MUTASYON ANALİZİKIT (EKZON 9, 11, 13, 17)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA), FFPE
2-3 ML15
174KİMERİZM ANALİZİ - PCR ANALİZİ İLE (ALICI - VERİCİ)• KEMİK İLİİİ NAKLİ SONRASI TRANSPLANTASYON BAİARISIFRAGMAN ANALİZİKAN (EDTA)2-3 ML10
175KRAS GENİ MUTASYON ANALİZİKRAS (TÜM GEN)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
FFPE
2-3 ML21
176KRAS GENİ MUTASYON ANALİZİKRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
177KRAS + NRAS GENİ MUTASYON ANALİZİKRAS + NRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
178MİKROSATELLİT İNSTABİLİTESİ (MSI)DNA STR BÖLGELERİ• HEREDİTER NONPOLİPOZİS KOLOREKTAL KANSER (HNPCC)
MMR GEN ANALİZİ ÖNCESİNDE
FRAGMAN ANALİZİKAN (EDTA)
FFPE
2-3 ML15
179MPL GENİ MUTASYON ANALİZİMPL (W515L/K VE S505N)• KANSER,
• ESANSİYEL TROMBOSİTEMİ (ET),
• MYELOFİBROZİS İLE GİDEN MYELOİD METAPLAZİ
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
2-3 ML10
180NPM1 GENİ MUTASYON ANALİZİNPM1 (EKZON 12)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİİİ (EDTA)
2-3 ML10
181NÖROFİBROMATOZİS TİP 1NF1 Delesyon / DublikasyonMLPAKAN (EDTA)5 ML30
182NÖROFİBROMATOZİS TİP 1NF1 TGDANGSKAN (EDTA)5 ML30
183*NÖROFİBROMATOZİS TİP 2NF2 Delesyon / DublikasyonMLPAKAN (EDTA)5 ML30
184NÖROFİBROMATOZİS TİP 2NF2 TGDANGSKAN (EDTA)5 ML30
185NRAS GENİ MUTASYON ANALİZİNRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
186p16 GENİ MUTASYON ANALİZİp16 (TÜM GEN )• KANSERDİZİ ANALİZİFFPE15
187P53 GENİ MUTASYON ANALİZİP53 (EKZON 4, 5, 6, 7, 8, 9)• Lİ FRAUMENİ SENDROMU TİP I,
• KANSER
DİZİ ANALİZİFFPE15
188PDGFRA GENİ MUTASYON ANALİZİPDGFRA (12, 18, 19)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE15
189PDGFRB GENİ MUTASYON ANALİZİPDGFRB (EKZON 18, 19)• KANSER
• KOSAKİ SENDROMU
• İNFANTİL MİYOFİBROMATOZİS
DİZİ ANALİZİFFPE10
190PIK3CA GENİ MUTASYON ANALİZİPIK3CA (EKZON 9, 20)• KANSERDİZİ ANALİZİFFPE10
191PTEN GENİ MUTASYON ANALİZİPTEN (TÜM GEN)• KANSER
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE21
192BCR/ABL TRANSLOKASYONUBCR-ABL t(9;22)• KANSERREAL-TIME PCRKAN (EDTA)
KEMİK İLİİİ (EDTA)
2-3 ML10
193RET GENİ MUTASYON ANALİZİRET (EKZON 10, 11, 13, 14, 15, 16)• KANSER
• MULTİPLE ENDOKRİN NEOPLAZİ TİP 2A/2B (MEN2A/MEN2B)
DİZİ ANALİZİKAN (EDTA)2-3 ML15
194DPYD GENİ MUTASYON ANALİZİ
DPYD (IVS14 + 1G>A, DPYD*2A)• DPD EKSİKLİİİ
• 5-FLUOROURACİL TOKSİSİTESİ
DİZİ ANALİZİKAN (EDTA)2-3 ML10
195UGT1A1 TEKRAR ANALİZİUGT1A1*28 (TATA BOX)• İRİNOTEKAN TOKSİSİTESİ
• KALITSAL HİPERBİLİRÜBİNEMİ
• GILBERT SENDROMU
DİZİ ANALİZİKAN (EDTA)2-3 ML10
196 TSC1-TSC2 Genleri Dizi Analizi TSC1-TSC2TuberosklerozDİZİ ANALİZİKAN (EDTA)2 - 3 ML30
197CALR (Calreticulin) Gen Mutasyon AnaliziCALRDİZİ ANALİZİKAN (EDTA)2-3 ML15
198TPMT 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 ANALİZİKAN (EDTA)2-3 ML10
199GSTM1 MUTASYON ANALİZİ
(3 POLİMORFİZM)
GSTM1• İLAÇ TOKSİSİTESİ
• KANSER RİSK ANALİZİ
DİZİ ANALİZİKAN (EDTA)2-3 ML10
200İLAÇ SENSİTİVİTE PANELİ - GENİİ PANELCYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
201İLAÇ SENSİTİVİTE PANELİ - STANDART PANELCYP2D6, CYP2C9, CYP2C19• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
202İLAÇ SENSİTİVİTE PANELİ - NÖROPSİKİYATRİCYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
203İLAÇ SENSİTİVİTESİ - WARFARIN DOZ PANELİ
CYP2C9, VKORC1 (CYP2C9 *2, *3, VKORC1 -1639G>A)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
204İLAÇ SENSİTİVİTESİ - VKORC1 GENİ MUTASYON ANALİZİVKORC1 (-1639C>A)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
205CYP2C19 GENİ MUTASYON ANALİZİ
CYP2C9( *1,*2, *3, *4, *17)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
206İLAÇ SENSİTİVİTESİ - CYP2D6 MUTASYON ANALİZİCYP2D6 (*1, *2, *3, *4, *6, *7, *8, *9, *10, *11, *12, *14, *17, *29, *39, *41)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
207CYP1A2 MUTASYON ANALİZİ
(2 POLİMORFİZM: CYP1A2
CYP1A2 (*1C, *1F)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
208CYP3A4 MUTASYON ANALİZİCYP3A4 (*2)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
2095HTT (SCL6A4) MUTASYON ANALİZİSCL6A4 (KISA ALLEL VEYA DELESYON)• SSRI SENSİTİVİTESİ VE DOZ AYARLAMASIDİZİ ANALİZİKAN (EDTA)2-3 ML10
210PGT-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 HASTALIİIDİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
6 HAFTA
211PGT-M: NADİR TEK GEN HASTALIKLARI.KURUMDAN BİLGİ ALINIZ.DİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
8 HAFTA
212HLA + TEK GEN HASTALIİI (PGT-M)HLA + TEK GEN HASTALIİIDİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
8 HAFTA
213EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 5 KROMOZOM13, 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 ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
214EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 7 KROMOZOM13, 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 ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
215EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 9 KROMOZOM13, 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 ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
216FISH İNCELEMESİ - YAPISAL KROMOZOMAL HASTALIKLAR İÇİN• YAPISAL KROMOZOM ANOMALİLERİ
• RECİPROKAL TRANSLOKASYON
• ROBERTSONİAN TRANSLOKASYON
• İNSERSİYONEL TRANSLOKASYON
• İNSERSİYONEL DELESYON
• İNSERSİYONEL DUPLİKASYON
• İNVERSİYON
FISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
217X KROMOZOMU İLE KALITILAN HASTALIKLARDA FISH İNCELEMESİX KROMOZOMU• X-KROMOZOMU İLE AKTARILAN HASTALIKLARFISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
218EMBRİYOLARDA 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
NGS5. GÜN (TROFEKTODERM) BİYOPSİSİ15
219EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI – (PGT-A + PGT-SR)24 KROMOZOM - TRANSLOKASYON, İNVERSİYON (8Mb VE ALTI)ANNE VE/VEYA BABADA GÖZLENEN TRANSLOKASYON/INVERSIYON TAİIYICILIİI
NGS5. GÜN (TROFEKTODERM) BİYOPSİSİ3 HAFTA
220NGS FOCUS 15AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53KANSERNGSFFPE3 HAFTA
221NGS FOCUS 77ABL1, 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***, VHLKANSERNGSFFPE2-3 HAFTA
222NGS FOCUS 77LABL1, 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***, VHLKANSERNGSctDNA2-3 HAFTA
223NGS FOCUS HEREDITERACD, 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, XRCC2KANSER YATKINLIKNGSKAN4 HAFTA
224NGS FOCUS CGPDNA: 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
KANSERNGSFFPE2-3 HAFTA
225NGS FOCUS TMB1.65 Mb of DNAKANSERNGSFFPE4 HAFTA
226NGS FOCUS 500DNA: 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
KANSERNGSFFPE3-4 HAFTA
227NGS FOCUS OCAPLUSDNA: 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
KANSERNGSFFPE2-3 HAFTA
228NGS FOCUS 500 HRDNGS FOCUS 500 + HRD SKORKANSERNGSFFPE3-4 HAFTA
229NGS FOCUS RNA FUSIONABI1, 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, ZNF687KANSERNGSFFPE3-4 HAFTA

I test contrassegnati con (*) sono accreditati dal TÜRKAK.

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– Il contenuto di questa pagina è stato rivisto il 13.03.2024.

– Affinché la PGD possa essere eseguita nelle malattie a gene singolo, è necessario che sia stabilita la diagnosi clinica della malattia nella famiglia e che la mutazione sia identificata mediante test genetici.

– Se la mutazione non è stata identificata, è necessario un tempo supplementare per identificarla esaminando il gene che causa la malattia (in un centro nazionale o estero).

– Se è stata identificata una mutazione, è obbligatorio eseguire un set-up per le mutazioni che rientrano nell’altro gruppo di malattie del nostro elenco prima della FIV e della DGP.

– I nostri test sono aperti per l’accettazione dei campioni dalle 09:00 alle 18:00 nei giorni feriali e dalle 09:00 alle 14:00 il sabato.