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Sıra No.Test İsmiGen/BölgeEndikasyonAnaliz YöntemiÖrnek TipiMiktar
(min)
Rapor
Tarihi (gün)
1KROMOZOM ANALİZİ - KAN *24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI
• İNFERTİLİTE
HÜCRE KÜLTÜRÜPERİFERİK KAN (HEPARİNLİ)2-3 ML15
2KROMOZOM ANALİZİ - AMNİYON SIVISI *24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• PATOLOJİK USG
• MATERNAL YAŞ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜAMNİYON SIVISI15-20ML21
3KROMOZOM ANALİZİ - CVS *24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• PATOLOJİK USG
• MATERNAL YAŞ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORYONİK VİLLUS2-3 ADET VİLLUS (2-3MG)21
4KROMOZOM ANALİZİ - KORD24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• PATOLOJİK USG
• MATERNAL YAŞ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORD KANI (HEPARİNLİ)2-3ML7
5KROMOZOM ANALİZİ - ABORTUS *24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• TEKRARLAYAN GEBELİK KAYIPLARI
HÜCRE KÜLTÜRÜABORTUS MATERYALİ30-50ΜG21
6KROMOZOM ANALİZİ - CİLT DOKUSU *24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• MULTİPLE KONJENİTAL ANOMALİ
• MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI
• İNFERTİLİTE
HÜCRE KÜLTÜRÜCİLT DOKUSU30-50ΜG21
7KROMOZOM ANALİZİ + HIZLI FISH - AMNİYON SIVISI24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• PATOLOJİK USG
• MATERNAL YAŞ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜAMNİYON SIVISI15-20ML2 + 21
8KROMOZOM ANALİZİ + HIZLI FISH - CVS24 KROMOZOM• KROMOZOMAL HASTALIK ŞÜPHESİ
• PATOLOJİK USG
• MATERNAL YAŞ
• ANORMAL TRİPLE TEST
HÜCRE KÜLTÜRÜKORYONİK VİLLUS2-3MG2 + 21
9MOLEKÜLER GENETİK - MOLEKÜLER KARYOTİPLEME24 KromozomİNFERTİLİTE DÜŞÜK TEKRARLI DÜŞÜK TANIMLANAMAMIŞ GENETİK HASTALIK MULTİPLE KONJENİTAL ANOMALİACGHEDTA'LI KAN /AS/CVS/ABORT2-3ML/5-20ML/2-3MG15
10SRD5A2 GENİ MUTASYON ANALİZİSRD5A2 (TÜM GEN)• 5Α-REDÜKTAZ EKSİKLİĞİ TİP 2DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
11ADA GENİ MUTASYON ANALİZİADA (TÜM GEN)• ADENOZİN DEAMİNAZ EKSİKLİĞİDİZİ 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
16RPS19 GENİ MUTASYON ANALİZİRPS19 (TÜM GEN)• BLACKFAN-DIAMOND ANEMİSİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
17NOTCH3 GENİ MUTASYON ANALİZİNOTCH3 (EKZON 3,4)• CADASILDİZİ ANALİZİEDTA'LI KAN2-3ML15
18NOTCH3 GENİ MUTASYON ANALİZİNOTCH3 (EKZON 3,4,11,18,19)• CADASILDİZİ ANALİZİEDTA'LI KAN2-3ML30
19ASPA GENİ MUTASYON ANALİZİASPA (TÜM GEN)• CANAVANDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
20MPZ GENİ MUTASYON ANALİZİMPZ (TÜM GEN)• CHARCOT-MARİE-TOOTHDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
21PMP22 GENİ MUTASYON ANALİZİPMP22 (TÜM GEN)• CHARCOT-MARİE-TOOTH 1A (CMT1A)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
22PMP22 GENİ DUPLİKASYON ANALİZİPMP22• CHARCOT-MARİE-TOOTH (CMT1A)FRAGMAN ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
23CRLF1 GENİ MUTASYON ANALİZİCRLF1 (TÜM GEN)• COLD-INDUCED SWEATİNG SENDROMU TİP 1DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
24TOR1A1 GENİ GAG DELESYON ANALİZİTOR1A1• DİSTONİA (DYT1)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
25DİSTROFİN GENİ MUTASYON ANALİZİDİSTROFİN (79 EKZON)• DMD/BMDMLPAEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
26TÜM EKZOM SEKANSLAMA (WES)TÜM EKZOM• EKZOM SEKANSLAMANGSEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG60
27GLA GENİ MUTASYON ANALİZİ GLA (TÜM GEN)• FABRY HASTALIĞIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
28HAE GENİ MUTASYON ANALİZİHAE• FAKTÖR XII?EDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
29PKU GENİ MUTASYON ANALİZİPKU (TÜM GEN)• FENİLKETONÜRİ HASTALIĞIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
30FMF MUTASYON ANALİZİ *MEFV• AİLESEL AKDENİZ ATEŞİDİZİ ANALİZİ
NGS
EDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
31FMR1 GENİ CGG TEKRAR ANALİZİFMR1• FRAJİL XFRAGMAN ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
32G6PD GENİ MUTASYON ANALİZİG6PD (TÜM GEN)• G6PD EKSİKLİĞİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
33GALK1 GENİ MUTASYON ANALİZİGALK1 (TÜM GEN)• GALAKTOKİNAZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
34GALT GENİ MUTASYON ANALİZİGALT (TÜM GEN)• GALAKTOZEMİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
35 RAB27A GENİ MUTASYON ANALİZİ RAB27A (TÜM GEN)• GRİSCELLİ SENDROMU TİP 2DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
36G6PC GENİ MUTASYON ANALİZİG6PC (TÜM GEN)• GSD TİP1A (VON GİERKE)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
37SLC37A4 GENİ MUTASYON ANALİZİSLC37A4 (TÜM GEN)• GSD TİP1B/1CDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
38F9 GENİ MUTASYON ANALİZİF9 (TÜM GEN)• HEMOFİLİ B HASTALIĞIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
39HFE GENİ MUTASYON ANALİZİHFE (H63D VE C282Y)• HEMOKROMATOZİSDİZİ ANALİZİEDTA'LI KAN2-3ML10
40FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 10)• HİPOKONDROPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
41FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 9,10,13,15)• HİPOKONDROPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
42GATA3 GENİ MUTASYON ANALİZİGATA3 (TÜM GEN)• HİPOPARATİROİDİZM-SAĞIRLIK-RENAL DİSPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
43IDUA GENİ MUTASYON ANALİZİIDUA (TÜM GEN)• HUNTER SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
44 IDS GENİ MUTASYON ANALİZİ IDS (TÜM GEN)• HURLER SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
45GATA3 GENİ MUTASYON ANALİZİGATA3 (TÜM GEN)• HDR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
46MEK1 GENİ MUTASYON ANALİZİMEK1 (EKZON 2,3)• KARDİYOFASYOKUTANÖZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
47MEK2 GENİ MUTASYON ANALİZİMEK2 (EKZON 1, 2, 3)• KARDİYOFASYOKUTANÖZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG15
48CFTR GENİ MUTASYON ANALİZİCFTR• KİSTİK FİBROZ• NGS
• FRAGMAN ANALİZİ
• DİZİ ANALİZİ
EDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
49CHRNE GENİ MUTASYON ANALİZİCHRNE (EKZON 11, 12)• KONJENİTAL MYASTENİK SENDROMDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
50CONNEKSİN 26 GENİ MUTASYON ANALİZİ *CONNEKSİN 26 (EKZON 2)• KONJENİTAL SAĞIRLIKDİZİ ANALİZİEDTA'LI KAN2-3ML15
51GJB1 GENİ MUTASYON ANALİZİGJB1 (TÜM GEN)• KONJENİTAL SAĞIRLIKDİZİ ANALİZİEDTA'LI KAN2-3ML15
52MTND GENİ MUTASYON ANALİZİ (A52T, R340H, M64V)MTND• LEBER HEREDITER OPTİK NÖROPATİ (LHON) MUTASYON ANALİZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
53SH2D1A GENİ MUTASYON ANALİZİ SH2D1A (TÜM GEN)• LENFOPROLİFERATİF SENDROMDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG21
54FBN1 GENİ MUTASYON ANALİZİFBN1 (TÜM GEN)• MARFAN SENDROMUNGSEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
55ARSA GENİ MUTASYON ANALİZİARSA (TÜM GEN)• METAKROMATİK LÖKODİSTROFİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
56IDS GENİ MUTASYON ANALİZİIDS (TÜM GEN)• MUKOPOLİSAKKARİDOZİS TİP IIDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
57GALNS GENİ MUTASYON ANALİZİGALNS (TÜM GEN)• MUKOPOLİSAKKARİDOZİS TİP IVADİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
58SMPD GENİ MUTASYON ANALİZİ *SMPD (TÜM GEN)• NİEMANN-PİCK SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
59ELA2 GENİ MUTASYON ANALİZİELA2 (TÜM GEN)• NÖTROPENİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
60CLCN7 GENİ MUTASYON ANALİZİCLCN7 (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
61OSTM1 GENİ MUTASYON ANALİZİOSTM1 (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
62TCIRG GENİ MUTASYON ANALİZİTCIRG (TÜM GEN)• OSTEOPETROZİSDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
63DOK7 GENİ MUTASYON ANALİZİDOK7 (TÜM GEN)• PENA SHOKEİR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
64RAPSN GENİ MUTASYON ANALİZİRAPSN (TÜM GEN)• PENA SHOKEİR SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
65MECP2 GENİ MUTASYON ANALİZİMECP2 (TÜM GEN)• RETT SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
66SBDS GENİ MUTASYON ANALİZİSBDS (TÜM GEN)• SHWACHMAN-DİAMOND SENDROMUDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
67NEU1 GENİ MUTASYON ANALİZİNEU1 (TÜM GEN)• SİALİDAZ (NÖROMİNİDAZ)DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
68DHCR7 GENİ MUTASYON ANALİZİDHCR7 (TÜM GEN)• SMİTH-LEMLİ-OPİTZDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG45
69SMN1-2 GENİ MUTASYON ANALİZİ (DELESYON & DUPLİKASYON)SMN1-2• SPİNAL MUSKÜLER ATROFİ (SMA)MLPAEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG14
70SMA TAŞIYICILIKSMN1-2• SPİNAL MUSKÜLER ATROFİ (SMA) TAŞIYICILIKREAL-TIME PCREDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG7
71FGFR3 GENİ MUTASYON ANALİZİFGFR3 (EKZON 10, 15)• TANATOFORİK DİSPLAZİDİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG10
72ACTA2 GENİ MUTASYON ANALİZİACTA2 (TÜM GEN)• TORASİK AORTİK ANEVRİZMA AORTİK DİSEKSİYON TİP 4DİZİ ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG30
73ACE GENİ MUTASYON ANALİZİACE• KARDİYOVASKÜLER RİSKJEL ELEKTROFOREZİEDTA'LI KAN2-3ML10
74ALFA-1-ANTİTRİPSİN EKSİKLİĞİPROTEAZ İNHİBİTÖRÜ (Pİ)• ALFA-1-ANTİTRİPSİN EKSİKLİĞİ (AAT)DİZİ ANALİZİEDTA'LI KAN2-3ML10
75APOE GENİ ALLEL ANALİZİAPOE• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
76FGB GENİ MUTASYON ANALİZİFGB (BETA-FİBRİNOJEN) (455G>A)• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
77HLA GENİ MUTASYON ANALİZİHLA (DQ2, DQ8)• ÇÖLYAK HASTALIĞI – GLUTEN İNTOLERANSIREAL-TIME PCREDTA'LI KAN2-3ML10
78FAKTÖR II GENİ MUTASYON ANALİZİ *FAKTÖR II (PROTROMBİN)• KARDİYOVASKÜLER RİSK - FII EKSİKLİĞİREAL-TIME PCREDTA'LI KAN2-3ML7
79FAKTÖR V MUTASYON ANALİZİFAKTÖR V (H1299R)• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİDİZİ ANALİZİEDTA'LI KAN2-3ML7
80FAKTÖR V LEİDEN MUTASYON ANALİZİ *FAKTÖR V• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİREAL-TIME PCREDTA'LI KAN2-3ML7
81FAKTÖR XIII MUTASYON ANALİZİFAKTÖR XIII (V34L)• KARDİYOVASKÜLER RİSK - FXIII EKSİKLİĞİREAL-TIME PCREDTA'LI KAN2-3ML10
82FSHB GENİ MUTASYON ANALİZİFSHB (211G>T)• İNFERTİLİTEDİZİ ANALİZİEDTA'LI KAN2-3ML15
83DNA KİMLİKLENDİRME (FREEZING IONCESI)FRAGMAN ANALİZİEDTA'LI KAN2-3ML15
84HLAB27 GENİ MUTASYON ANALİZİ *HLAB27• OTOİMMUN HASTALIKLARREAL-TIME PCREDTA'LI KAN2-3ML10
85HPA1 GENİ ALLEL ANALİZİHPA1• KARDİYOVASKÜLER RİSKDİZİ ANALİZİEDTA'LI KAN2-3ML10
86KARDİYOVASKÜLER 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
87MATERNAL KONTAMİNASYON TESTİ• KONTAMİNASYON ELİMİNASYONUFRAGMAN ANALİZİEDTA'LI KAN + ABORT/AS/CVS2-3ML/5-20ML/2-3MG15
88MTHFR GENİ MUTASYON ANALİZİ *MTHFR (A1298C)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
89MTHFR GENİ MUTASYON ANALİZİMTHFR (C677T)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
90PAI-1 GENİ MUTASYON ANALİZİ *PAI-1 (4G/5G)• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
91TROMBOFİLİ PANELİ *FAKTÖR II, FAKTÖR V, MTHFR C677T, MTHFR A1298C• KARDİYOVASKÜLER RİSKREAL-TIME PCREDTA'LI KAN2-3ML7
92Y KROMOZOM MİKRODELESYONU *Y KROMOZOMU (24 STR)• İNFERTİLİTEFRAGMAN ANALİZİEDTA'LI KAN2-3ML10
9313, 18, 21, X VE Y KROMOZOMU HIZLI FISH *13, 18, 21, X VE Y KROMOZOMU• KROMOZOMAL HASTALIK ŞÜPHESİ
• İNFERTİLİTE
FISH ANALİZİEDTA'LI KAN/AS/CVS2-3ML/5-20ML/2-3MG3
94SPERM FISH13, 18, 21, X VE Y KROMOZOMU• İNFERTİLİTEFISH ANALİZİKONSANTRE SPERM3-5
95SPERM DNA FRAGMANTASYONU ANALİZİİNFERTİLİTETUNNEL TESTİKONSANTRE SPERM15
96MİKRODELESYON FISH - ALAGİLLEJAG1 (20p12.2)• ALAGİLLE SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
97MİKRODELESYON FISH -
CRİ-DU-CHAT
5p15.2• CRİ-DU-CHAT SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
98MİKRODELESYON FISH - DİGEORGE/VCFS *TUPLE1 (22q11.2)• DİGEORGE/VCFS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
99MİKRODELESYON FISH - DİYAFRAGMA HERNİSİIGF1R (15q26)• KONJENİTAL DİYAFRAGMATİK HERNİFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
100MİKRODELESYON FISH - KALLMANNKAL1 (Xp22.3)• KALLMANN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
101MİKRODELESYON FISH - NÖROFİBROMATOZİSNF1 (17q11.2)• NÖROFİBROMATOZİS TİP 1FISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
102MİKRODELESYON FISH -
PRADER-WİLLİ/ANGELMAN
SNRPN (15q11.2)• PRADER-WİLLİ/ANGELMAN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
103MİKRODELESYON FISH -
SMİTH-MAGENİS
RAI1 (17p11.2)• SMİTH-MAGENİS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
104MİKRODELESYON FISH -
SOTOS
NSD1 (5q35)• SOTOS SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
105MİKRODELESYON FISH - WİLLİAMS-BEURENELN (7q11.23)• WİLLİAMS-BEUREN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
106MİKRODELESYON FISH -
WOLF-HİRSCHHORN
WHSC (4516.3)• WOLF-HİRSCHHORN SENDROMUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
107MİKRODELESYON FISH -
X İNAKTİVASYONU
XIST (Xq13.2)• X İNAKTİVASYONUFISH ANALİZİHEPARİNLİ KAN/AS/CVS2-3ML/5-20ML/2-3MG7
108KİMERİZM ANALİZİ - FISH ANALİZİ İLE• NAKİL SONRASI TRANSPLANTASYON BAŞARISIFISH ANALİZİKAN (HEPARİN) / KEMİK İLİĞİ (HEPARİN)2-3 ML3-5
109KEMİK İLİĞİ (Kİ) TRANSPLANTASYONU SONRASI• NAKİL SONRASI TRANSPLANTASYON BAŞARISIMOLEKÜLERKAN (EDTALI) /KEMİK İLİĞİ (EDTALI)2-3 ML3-5
110FISH ANALİZİ - EML4/ALKEML4/ALK• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
111FISH ANALİZİ - 1p/19q DELESYONLARI1p36 & 19q13• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
112FISH ANALİZİ - ATM TRANSLOKASYONATM (11q22.3)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
113FISH ANALİZİ - RB1
DELESYON
RB1 (13q14)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
114FISH ANALİZİ - 13q14.3
DELESYON
D13S319 (13q14.3)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
115FISH ANALİZİ - LAMp1
TRANSLOKASYON
LAMp1 (13q34)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
116FISH ANALİZİ - IGH TRANSLOKASYONIGH (14q32)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
117FISH ANALİZİ – IGF1R
AMPLİFİKASYON VE DELESYON
IGF1R (15q26)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE2-3 ML7
118FISH ANALİZİ - P53
DELESYON
P53 (17p13.1)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
119FISH ANALİZİ – RARA
TRANSLOKASYON
RARA (17q21)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
120FISH ANALİZİ - MALT1
TRANSLOKASYON VE KROMOZOM 18 ANÖPLOİDİSİ
MALT1 (18q21)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
FFPE
2-3 ML7
121FISH ANALİZİ - 20/20q DELESYON20q13.2• AKUT MYELOİD LÖSEMİ (AML),
• MYELODİSPLASTİK SENDROM (MDS),
• POLİSİTEMİA VERA (PV)
• PROGNOZ VE TEDAVİYE YANIT
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN)
2-3 ML7
122FISH ANALİZİ - AURKAAURKA (20q13)• KANSERFISH ANALİZİFFPE7
123FISH ANALİZİ - EGR1
DELESYONU VEYA KROMOZOM 5 ANÖPLOİDİSİ
EGR1 (5q31)• KANSER,
• MYELODİSPLASTİK SENDROMLAR (MDS)
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
124FISH ANALİZİ - 7/7q DELESYONU VEYA KROMOZOM 7 ANÖPLOİDİSİ7/7q- (7q31)• KANSER,
• MYELODİSPLASTİK SENDROMLAR (MDS)
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
125FISH ANALİZİ - C-MYC
AMPLİFİKASYON
C-MYC (8q24)• KANSER,
• BARRET ÖZOFAGUS
FISH ANALİZİFFPE,
BRONŞİAL YIKAMA ÖRNEĞİ
7
126FISH ANALİZİ - C-MET
AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ
C-MET (7q31.2)• KANSERFISH ANALİZİFFPE7
127FISH ANALİZİ - EGFR AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİEGFR (7p12)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
128FISH ANALİZİ - FIP1L1/PDGFRA
TRANSLOKASYON
FIP1L1/PDGFRA (4q12)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
129FISH ANALİZİ - HER2/NEU
AMPLİFİKASYON VE DELESYON
HER2/NEU (17q11.2-12)
(C-ERBB2)
• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
130FISH ANALİZİ - KROMOZOM 12 ANÖPLOİDİSİKROMOZOM 12• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
131FISH ANALİZİ - KROMOZOM 8 ANÖPLOİDİSİKROMOZOM 8• KANSER,
• MYELODİSPLASTİK SENDROM (MDS)
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN)
2-3 ML7
132FISH ANALİZİ - N-MYC AMPLİFİKASYONU VE KROMOZOM 2 ANÖPLOİDİSİN-MYC (2p24.3)• KANSERFISH ANALİZİFFPE7
133FISH ANALİZİ - TEL/AML1 TRANSLOKASYONTEL/AML1
(12q13.2 / 21q22.12)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
134FISH ANALİZİ - MLL
TRANSLOKASYON
MLL (11q23)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
135FISH ANALİZİ - E2A (TCF3)
TRANSLOKASYON
E2A (TCF3) (19p13.3)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
FFPE
2-3 ML7
136FISH ANALİZİ - EWSR1 TRANSLOKASYONEWSR1 (22q12)• KANSERFISH ANALİZİFFPE7
137FISH ANALİZİ - CCND1/IGH TRANSLOKASYON VE FÜZYONCCND1/IGH
11q13/14q32
t(11;14)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
138FISH ANALİZİ - API2/MALT1 TRANSLOKASYON VE FÜZYONAPI2/MALT1
11q21/18q21
t(11;18)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
FFPE
2-3 ML7
139FISH ANALİZİ - IGH/MAF TRANSLOKASYON VE FÜZYONIGH/MAF
14q32/16q23
t(14;16)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
140FISH ANALİZİ - IGH/BCL2 TRANSLOKASYON VE FÜZYONIGH/BCL2
14q32/18q21
t(14;18)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
141FISH ANALİZİ - PML/RARA TRANSLOKASYON VE FÜZYONPML/RARA
15q22/17q21.1
t(15;17)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
142FISH ANALİZİ - CBFB/MYH11 TRANSLOKASYON VE FÜZYONCBFB (16q22)
MYH11 (16p13.1)
t(16;16)(p13;q22)
• KANSER,
• EOZİNOFİLİK SENDROMLAR
FISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
143FISH ANALİZİ – ALK TRANSLOKASYON VE FÜZYONALK (2p23)• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
144FISH ANALİZİ - IGH/FGFR3 TRANSLOKASYON VE FÜZYONIGH/FGFR3
4p16.3/14q32.33
t(4;14)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
145FISH ANALİZİ - IGH/MYC TRANSLOKASYON VE FÜZYONMYC/IGH
8q24.21/14q32.33
t(8;14)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
FFPE
2-3 ML7
146FISH ANALİZİ - ETO/AML1 TRANSLOKASYON VE FÜZYONETO/AML1
8q21.3/21q22.12
t(8;21)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
147FISH ANALİZİ - BCR/ABL
TRANSLOKASYON VE FÜZYON
BCR/ABL
22q11.22/9q34.11
t(9;22)
• KANSERFISH ANALİZİKEMİK İLİĞİ (HEPARİN),
KAN (HEPARİN),
FFPE
2-3 ML7
148FISH ANALİZİ - TOp2A AMPLİFİKASYON VE DELESYONTOP2A (17q21.2)• KANSER,
• İLAÇ TEDAVİSİNE YANIT,
• ANTRASİKLİNLER
FISH ANALİZİFFPE7
149FISH ANALİZİ - ROS1
TRANSLOKASYON
ROS1 (6q22.1)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
150FISH ANALİZİ - PD-L1&2 (CD274) AMPLİFİKASYON VE DELESYONPD-L1&2 (9p24.1)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
FISH ANALİZİFFPE7
151ABL1 GENİ MUTASYON ANALİZİ *ABL1 (EKZON 4, 5, 6)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA), FFPE
2-3 ML15
152BRAF GENİ MUTASYON ANALİZİBRAF (EKZON 11, 15)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE10
153BRAF + NRAS GENİ MUTASYON ANALİZİBRAF (EKZON 11, 15)
+
NRAS (EKZON 1, 2, 3)
• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK)
FFPE
10 ML10
154BRCA1 - BRCA2 GENİ MUTASYON ANALİZİ *BRCA1 (TÜM GEN)
BRCA2 (TÜM GEN)
• KANSER
• KANSER YATKINLIK
• İLAÇ TEDAVİSİNE YANIT
NGSKAN (EDTA),
FFPE
2-3 ML45
155CHEK2 GENİ MUTASYON ANALİZİCHEK2 (EKZON 9, 10)• KANSER,
• Lİ-FRAUMENİ SENDROMU TİP II,
• İLAÇ TEDAVİSİNE YANIT,
• ANTRASİKLİNLER
DİZİ ANALİZİKAN (EDTA),
FFPE
2-3 ML10
156EGFR GENİ MUTASYON ANALİZİ *EGFR (EKZON 18, 19, 20, 21)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRFFPE
KAN (STRECK)
10 ML10
157FLT3 GENİ MUTASYON ANALİZİ *FLT3 İNTERNAL TANDEM DUPLİKASYON (ITD) VE D835• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA)
2-3 ML10
158HRAS GENİ MUTASYON ANALİZİHRAS (EKZON 1, 2)• KANSERDİZİ ANALİZİFFPE10
159IDH1 GENİ MUTASYON ANALİZİIDH1 (EKZON 4)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA)
FFPE
2-3 ML10
160IDH2 GENİ MUTASYON ANALİZİIDH2 (EKZON 4)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA)
FFPE
2-3 ML10
161JAK2 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 İLİĞİ (EDTA)
2-3 ML10
162JAK2 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 İLİĞİ (EDTA)
2-3 ML10
163KIT GENİ MUTASYON ANALİZİ *KIT (EKZON 9, 11, 13, 17)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA), FFPE
2-3 ML15
164KİMERİZM ANALİZİ - PCR ANALİZİ İLE (ALICI - VERİCİ)• KEMİK İLİĞİ NAKLİ SONRASI TRANSPLANTASYON BAŞARISIFRAGMAN ANALİZİKAN (EDTA)2-3 ML10
165KRAS GENİ MUTASYON ANALİZİKRAS (TÜM GEN)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİKAN (EDTA),
FFPE
2-3 ML21
166KRAS GENİ MUTASYON ANALİZİ *KRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
167KRAS + NRAS GENİ MUTASYON ANALİZİKRAS + NRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
168MİKROSATELLİT İNSTABİLİTESİ (MSI)DNA STR BÖLGELERİ• HEREDİTER NONPOLİPOZİS KOLOREKTAL KANSER (HNPCC)
MMR GEN ANALİZİ ÖNCESİNDE
FRAGMAN ANALİZİKAN (EDTA)
FFPE
2-3 ML15
169MPL GENİ MUTASYON ANALİZİMPL (W515L/K VE S505N)• KANSER,
• ESANSİYEL TROMBOSİTEMİ (ET),
• MYELOFİBROZİS İLE GİDEN MYELOİD METAPLAZİ
DİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA)
2-3 ML10
170NPM1 GENİ MUTASYON ANALİZİNPM1 (EKZON 12)• KANSERDİZİ ANALİZİKAN (EDTA),
KEMİK İLİĞİ (EDTA)
2-3 ML10
171NRAS GENİ MUTASYON ANALİZİ *NRAS (KODON 12, 13, 59, 61, 117, 146)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
REAL-TIME PCRKAN (STRECK),
FFPE
10 ML10
172p16 GENİ MUTASYON ANALİZİp16 (TÜM GEN )• KANSERDİZİ ANALİZİFFPE15
173P53 GENİ MUTASYON ANALİZİP53 (EKZON 4, 5, 6, 7, 8, 9)• Lİ FRAUMENİ SENDROMU TİP I,
• KANSER
DİZİ ANALİZİFFPE15
174PDGFRA GENİ MUTASYON ANALİZİPDGFRA (12, 18, 19)• KANSER,
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE15
175PDGFRB GENİ MUTASYON ANALİZİPDGFRB (EKZON 18, 19)• KANSER
• KOSAKİ SENDROMU
• İNFANTİL MİYOFİBROMATOZİS
DİZİ ANALİZİFFPE10
176PIK3CA GENİ MUTASYON ANALİZİ *PIK3CA (EKZON 9, 20)• KANSERDİZİ ANALİZİFFPE10
177PTEN GENİ MUTASYON ANALİZİ *PTEN (TÜM GEN)• KANSER
• İLAÇ TEDAVİSİNE YANIT
DİZİ ANALİZİFFPE21
178BCR/ABL TRANSLOKASYONU *BCR-ABL t(9;22)• KANSERREAL-TIME PCRKAN (EDTA)
KEMİK İLİĞİ (EDTA)
2-3 ML10
179RET GENİ MUTASYON ANALİZİ *RET (EKZON 10, 11, 13, 14, 15, 16)• KANSER
• MULTİPLE ENDOKRİN NEOPLAZİ TİP 2A/2B (MEN2A/MEN2B)
DİZİ ANALİZİKAN (EDTA)2-3 ML15
180DPYD GENİ MUTASYON ANALİZİ
DPYD (IVS14 + 1G>A, DPYD*2A)• DPD EKSİKLİĞİ
• 5-FLUOROURACİL TOKSİSİTESİ
DİZİ ANALİZİKAN (EDTA)2-3 ML10
181UGT1A1 TEKRAR ANALİZİUGT1A1*28 (TATA BOX)• İRİNOTEKAN TOKSİSİTESİ
• KALITSAL HİPERBİLİRÜBİNEMİ
• GILBERT SENDROMU
DİZİ ANALİZİKAN (EDTA)2-3 ML10
182TPMT 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
183GSTM1 MUTASYON ANALİZİ
(3 POLİMORFİZM)
GSTM1• İLAÇ TOKSİSİTESİ
• KANSER RİSK ANALİZİ
DİZİ ANALİZİKAN (EDTA)2-3 ML10
184İLAÇ SENSİTİVİTE PANELİ - GENİŞ PANELCYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
185İLAÇ SENSİTİVİTE PANELİ - STANDART PANELCYP2D6, CYP2C9, CYP2C19• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
186İLAÇ SENSİTİVİTE PANELİ - NÖROPSİKİYATRİCYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
187İLAÇ SENSİTİVİTESİ - WARFARIN DOZ PANELİ
CYP2C9, VKORC1 (CYP2C9 *2, *3, VKORC1 -1639G>A)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML15
188İLAÇ SENSİTİVİTESİ - VKORC1 GENİ MUTASYON ANALİZİVKORC1 (-1639C>A)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
189CYP2C19 GENİ MUTASYON ANALİZİ
CYP2C9( *1,*2, *3, *4, *17)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
190İLAÇ 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
191CYP1A2 MUTASYON ANALİZİ
(2 POLİMORFİZM: CYP1A2
CYP1A2 (*1C, *1F)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
192CYP3A4 MUTASYON ANALİZİCYP3A4 (*2)• İLAÇ TEDAVİSİNE YANIT
• DOZ AYARLAMASI
DİZİ ANALİZİKAN (EDTA)2-3 ML10
1935HTT (SCL6A4) MUTASYON ANALİZİSCL6A4 (KISA ALLEL VEYA DELESYON)• SSRI SENSİTİVİTESİ VE DOZ AYARLAMASIDİZİ ANALİZİKAN (EDTA)2-3 ML10
194PGT-M: SIK TEK GEN HASTALIKLARI
(TALASEMİ, KİSTİK FİBROZİS. SMA, FMF, HLA TİPLEMESİ)
AİLE MARKER ÇALIŞMASI İÇİN 15 GÜNLÜK SÜREYE İHTİYAÇ VARDIR.
• TALASEMİ: HBA1, HBA2, HBB
• KİSTİK FİBROZ: CFTR
• SMA: SMN1, SMN2
• FMF: MEFV
• HLA TİPLEMESİ: HLA
• TEK GEN HASTALIĞIDİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
6 HAFTA
195PGT-M: NADİR TEK GEN HASTALIKLARI.KURUMDAN BİLGİ ALINIZ.DİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
8 HAFTA
196HLA + TEK GEN HASTALIĞI (PGT-M)HLA + TEK GEN HASTALIĞIDİZİ ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ
AİLE: KAN (EDTA)
8 HAFTA
197EMBRİYOLARDA 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 YAŞ
• TEKRARLAYAN GEBELİK KAYIPLARI
• TEKRARLAYAN IVF BAŞARISIZLIĞI
• ŞİDDETLİ GAMET MORFOLOJİSİ
FISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
198EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 7 KROMOZOM13, 16, 18, 21, 22, X, Y KROMOZOMLARI• SAYISAL KROMOZOM ANOMALİLERİ
• KLİNEFELTER, MOZAİK TURNER VB.
• İLERİ MATERNAL YAŞ
• TEKRARLAYAN GEBELİK KAYIPLARI
• TEKRARLAYAN IVF BAŞARISIZLIĞI
• ŞİDDETLİ GAMET MORFOLOJİSİ
FISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
199EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 9 KROMOZOM13, 15, 16, 17, 18, 21, 22, X, Y KROMOZOMLARI• SAYISAL KROMOZOM ANOMALİLERİ
• KLİNEFELTER, MOZAİK TURNER VB.
• İLERİ MATERNAL YAŞ
• TEKRARLAYAN GEBELİK KAYIPLARI
• TEKRARLAYAN IVF BAŞARISIZLIĞI
• ŞİDDETLİ GAMET MORFOLOJİSİ
FISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
200FISH 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
201X KROMOZOMU İLE KALITILAN HASTALIKLARDA FISH İNCELEMESİX KROMOZOMU• X-KROMOZOMU İLE AKTARILAN HASTALIKLARFISH ANALİZİEMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ1-2
202EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI (PGT-A)24 KROMOZOM - SAYISAL VE YAPISAL KROMOZOM BOZUKLUKLARI (8 Mb VE ÜSTÜ)• SAYISAL VE YAPISAL KROMOZOM ANOMALİLERİ
• KLİNEFELTER, MOZAİK TURNER VB.
• İLERİ MATERNAL YAŞ
• TEKRARLAYAN GEBELİK KAYIPLARI
• TEKRARLAYAN IVF BAŞARISIZLIĞI
• ŞİDDETLİ GAMET MORFOLOJİSİ
NGS5. GÜN (TROFEKTODERM) BİYOPSİSİ15
203EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI – (PGT-A + PGT-SR)24 KROMOZOM - TRANSLOKASYON, İNVERSİYON (8Mb VE ALTI)ANNE VE/VEYA BABADA GÖZLENEN TRANSLOKASYON/INVERSIYON TAŞIYICILIĞI
NGS5. GÜN (TROFEKTODERM) BİYOPSİSİ3 HAFTA
204NGS FOCUS 15AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53KANSERNGSFFPE
205NGS 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***, VHLKANSERNGSFFPE
206NGS 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***, VHLKANSERNGSctDNA
207NGS 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 YATKINLIKNGSKAN
208NGS 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
KANSERNGSFFPE
209NGS FOCUS TMB1.65 Mb of DNAKANSERNGSFFPE
210NGS 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
KANSERNGSFFPE
211NGS FOCUS 500 HRDNGS FOCUS 500 + HRD SKORKANSERNGSFFPE
212NGS 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, ZNF687KANSERNGSFFPE

Tests marked with (*) are accredited by TÜRKAK.

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– The content on this page was revised on 28.08.2023.

– In order for PGD to be performed in single gene disorders, the disease must be clinically diagnosed in the family and the mutation must be identified by genetic testing.

– If the mutation has not been identified, additional time is needed to identify the mutation by examining the disease-causing gene (in a domestic or foreign center).

– If a mutation has been identified, set-up for mutations that fall into other disease groups on our list is mandatory before IVF and PGD.