TEST LIST

Sıra No.	Test İsmi	Gen/Bölge	Endikasyon	Analiz Yöntemi	Örnek Tipi	Miktar (min)	Rapor Tarihi (gün)
1	KROMOZOM ANALİZİ - KAN	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE	HÜCRE KÜLTÜRÜ	PERİFERİK KAN (HEPARİNLİ)	2-3 ML	15
2	KROMOZOM ANALİZİ - AMNİYON SIVISI	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST	HÜCRE KÜLTÜRÜ	AMNİYON SIVISI	15-20ML	21
3	KROMOZOM ANALİZİ - CVS	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST	HÜCRE KÜLTÜRÜ	KORYONİK VİLLUS	2-3 ADET VİLLUS (2-3MG)	21
4	KROMOZOM ANALİZİ - KORD	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST	HÜCRE KÜLTÜRÜ	KORD KANI (HEPARİNLİ)	2-3ML	7
5	KROMOZOM ANALİZİ - ABORTUS	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • TEKRARLAYAN GEBELİK KAYIPLARI	HÜCRE KÜLTÜRÜ	ABORTUS MATERYALİ	30-50ΜG	21
6	KROMOZOM ANALİZİ - CİLT DOKUSU	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • MULTİPLE KONJENİTAL ANOMALİ • MENTAL RETARDASYON TEKRARLAYAN GEBELİK KAYIPLARI • İNFERTİLİTE	HÜCRE KÜLTÜRÜ	CİLT DOKUSU	30-50ΜG	21
7	KROMOZOM ANALİZİ + HIZLI FISH - AMNİYON SIVISI	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST	HÜCRE KÜLTÜRÜ	AMNİYON SIVISI	15-20ML	2 + 21
8	KROMOZOM ANALİZİ + HIZLI FISH - CVS	24 KROMOZOM	• KROMOZOMAL HASTALIK ŞÜPHESİ • PATOLOJİK USG • MATERNAL YAŞ • ANORMAL TRİPLE TEST	HÜCRE KÜLTÜRÜ	KORYONİK VİLLUS	2-3MG	2 + 21
9	MOLEKÜLER GENETİK - MOLEKÜLER KARYOTİPLEME	24 Kromozom	İNFERTİLİTE DÜŞÜK TEKRARLI DÜŞÜK TANIMLANAMAMIŞ GENETİK HASTALIK MULTİPLE KONJENİTAL ANOMALİ	ACGH	EDTA'LI KAN /AS/CVS/ABORT	2-3ML/5-20ML/2-3MG	15
10	SRD5A2 GENİ MUTASYON ANALİZİ	SRD5A2 (TÜM GEN)	• 5Α-REDÜKTAZ EKSİKLİĞİ TİP 2	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
11	ADA GENİ MUTASYON ANALİZİ	ADA (TÜM GEN)	• ADENOZİN DEAMİNAZ EKSİKLİĞİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
12	FGFR3 GENİ MUTASYON ANALİZİ	FGFR3 (EKZON 9,10,13,15)	• AKONDROPLAZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	15
13	HBA1 & HBA2 GENİ MUTASYON ANALİZİ	HBA1, HBA2	• ALFA TALASEMİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
14	SOD1 GENİ MUTASYON ANALİZİ	SOD1 (TÜM GEN)	• AMYOTROFİK LATERAL SKLEROZİS (ALS)	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
15	HBB GENİ MUTASYON ANALİZİ	HBB (TÜM GEN)	• BETA TALASEMİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	15
16	RPS19 GENİ MUTASYON ANALİZİ	RPS19 (TÜM GEN)	• BLACKFAN-DIAMOND ANEMİSİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
17	NOTCH3 GENİ MUTASYON ANALİZİ	NOTCH3 (EKZON 3,4)	• CADASIL	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	15
18	NOTCH3 GENİ MUTASYON ANALİZİ	NOTCH3 (EKZON 3,4,11,18,19)	• CADASIL	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	30
19	ASPA GENİ MUTASYON ANALİZİ	ASPA (TÜM GEN)	• CANAVAN	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
20	MPZ GENİ MUTASYON ANALİZİ	MPZ (TÜM GEN)	• CHARCOT-MARİE-TOOTH	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
21	PMP22 GENİ MUTASYON ANALİZİ	PMP22 (TÜM GEN)	• CHARCOT-MARİE-TOOTH 1A (CMT1A)	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
22	PMP22 GENİ DUPLİKASYON ANALİZİ	PMP22	• CHARCOT-MARİE-TOOTH (CMT1A)	FRAGMAN ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
23	CRLF1 GENİ MUTASYON ANALİZİ	CRLF1 (TÜM GEN)	• COLD-INDUCED SWEATİNG SENDROMU TİP 1	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
24	TOR1A1 GENİ GAG DELESYON ANALİZİ	TOR1A1	• DİSTONİA (DYT1)	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
25	DİSTROFİN GENİ MUTASYON ANALİZİ	DİSTROFİN (79 EKZON)	• DMD/BMD	MLPA	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
26	TÜM EKZOM SEKANSLAMA (WES)	TÜM EKZOM	• EKZOM SEKANSLAMA	NGS	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	60
27	GLA GENİ MUTASYON ANALİZİ	GLA (TÜM GEN)	• FABRY HASTALIĞI	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
28	HAE GENİ MUTASYON ANALİZİ	HAE	• FAKTÖR XII	?	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	10
29	PKU GENİ MUTASYON ANALİZİ	PKU (TÜM GEN)	• FENİLKETONÜRİ HASTALIĞI	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
30	FMF MUTASYON ANALİZİ	MEFV	• AİLESEL AKDENİZ ATEŞİ	DİZİ ANALİZİ NGS	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	10
31	FMR1 GENİ CGG TEKRAR ANALİZİ	FMR1	• FRAJİL X	FRAGMAN ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
32	G6PD GENİ MUTASYON ANALİZİ	G6PD (TÜM GEN)	• G6PD EKSİKLİĞİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
33	GALK1 GENİ MUTASYON ANALİZİ	GALK1 (TÜM GEN)	• GALAKTOKİNAZ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
34	GALT GENİ MUTASYON ANALİZİ	GALT (TÜM GEN)	• GALAKTOZEMİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
35	RAB27A GENİ MUTASYON ANALİZİ	RAB27A (TÜM GEN)	• GRİSCELLİ SENDROMU TİP 2	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
36	G6PC GENİ MUTASYON ANALİZİ	G6PC (TÜM GEN)	• GSD TİP1A (VON GİERKE)	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
37	SLC37A4 GENİ MUTASYON ANALİZİ	SLC37A4 (TÜM GEN)	• GSD TİP1B/1C	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
38	F9 GENİ MUTASYON ANALİZİ	F9 (TÜM GEN)	• HEMOFİLİ B HASTALIĞI	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
39	HFE GENİ MUTASYON ANALİZİ	HFE (H63D VE C282Y)	• HEMOKROMATOZİS	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	10
40	FGFR3 GENİ MUTASYON ANALİZİ	FGFR3 (EKZON 10)	• HİPOKONDROPLAZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	10
41	FGFR3 GENİ MUTASYON ANALİZİ	FGFR3 (EKZON 9,10,13,15)	• HİPOKONDROPLAZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	15
42	GATA3 GENİ MUTASYON ANALİZİ	GATA3 (TÜM GEN)	• HİPOPARATİROİDİZM-SAĞIRLIK-RENAL DİSPLAZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
43	IDUA GENİ MUTASYON ANALİZİ	IDUA (TÜM GEN)	• HUNTER SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
44	IDS GENİ MUTASYON ANALİZİ	IDS (TÜM GEN)	• HURLER SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
45	GATA3 GENİ MUTASYON ANALİZİ	GATA3 (TÜM GEN)	• HDR SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
46	MEK1 GENİ MUTASYON ANALİZİ	MEK1 (EKZON 2,3)	• KARDİYOFASYOKUTANÖZ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	15
47	MEK2 GENİ MUTASYON ANALİZİ	MEK2 (EKZON 1, 2, 3)	• KARDİYOFASYOKUTANÖZ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	15
48	CFTR GENİ MUTASYON ANALİZİ	CFTR	• KİSTİK FİBROZ	• NGS • FRAGMAN ANALİZİ • DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	10
49	CHRNE GENİ MUTASYON ANALİZİ	CHRNE (EKZON 11, 12)	• KONJENİTAL MYASTENİK SENDROM	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
50	CONNEKSİN 26 GENİ MUTASYON ANALİZİ	CONNEKSİN 26 (EKZON 2)	• KONJENİTAL SAĞIRLIK	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	15
51	GJB1 GENİ MUTASYON ANALİZİ	GJB1 (TÜM GEN)	• KONJENİTAL SAĞIRLIK	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	15
52	MTND GENİ MUTASYON ANALİZİ (A52T, R340H, M64V)	MTND	• LEBER HEREDITER OPTİK NÖROPATİ (LHON) MUTASYON ANALİZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
53	SH2D1A GENİ MUTASYON ANALİZİ	SH2D1A (TÜM GEN)	• LENFOPROLİFERATİF SENDROM	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	21
54	FBN1 GENİ MUTASYON ANALİZİ	FBN1 (TÜM GEN)	• MARFAN SENDROMU	NGS	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
55	ARSA GENİ MUTASYON ANALİZİ	ARSA (TÜM GEN)	• METAKROMATİK LÖKODİSTROFİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
56	IDS GENİ MUTASYON ANALİZİ	IDS (TÜM GEN)	• MUKOPOLİSAKKARİDOZİS TİP II	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
57	GALNS GENİ MUTASYON ANALİZİ	GALNS (TÜM GEN)	• MUKOPOLİSAKKARİDOZİS TİP IVA	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
58	SMPD GENİ MUTASYON ANALİZİ	SMPD (TÜM GEN)	• NİEMANN-PİCK SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
59	ELA2 GENİ MUTASYON ANALİZİ	ELA2 (TÜM GEN)	• NÖTROPENİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
60	CLCN7 GENİ MUTASYON ANALİZİ	CLCN7 (TÜM GEN)	• OSTEOPETROZİS	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
61	OSTM1 GENİ MUTASYON ANALİZİ	OSTM1 (TÜM GEN)	• OSTEOPETROZİS	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
62	TCIRG GENİ MUTASYON ANALİZİ	TCIRG (TÜM GEN)	• OSTEOPETROZİS	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
63	DOK7 GENİ MUTASYON ANALİZİ	DOK7 (TÜM GEN)	• PENA SHOKEİR SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
64	RAPSN GENİ MUTASYON ANALİZİ	RAPSN (TÜM GEN)	• PENA SHOKEİR SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
65	MECP2 GENİ MUTASYON ANALİZİ	MECP2 (TÜM GEN)	• RETT SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
66	SBDS GENİ MUTASYON ANALİZİ	SBDS (TÜM GEN)	• SHWACHMAN-DİAMOND SENDROMU	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
67	NEU1 GENİ MUTASYON ANALİZİ	NEU1 (TÜM GEN)	• SİALİDAZ (NÖROMİNİDAZ)	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
68	DHCR7 GENİ MUTASYON ANALİZİ	DHCR7 (TÜM GEN)	• SMİTH-LEMLİ-OPİTZ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	45
69	SMN1-2 GENİ MUTASYON ANALİZİ (DELESYON & DUPLİKASYON)	SMN1-2	• SPİNAL MUSKÜLER ATROFİ (SMA)	MLPA	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	14
70	SMA TAŞIYICILIK	SMN1-2	• SPİNAL MUSKÜLER ATROFİ (SMA) TAŞIYICILIK	REAL-TIME PCR	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
71	FGFR3 GENİ MUTASYON ANALİZİ	FGFR3 (EKZON 10, 15)	• TANATOFORİK DİSPLAZİ	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	10
72	ACTA2 GENİ MUTASYON ANALİZİ	ACTA2 (TÜM GEN)	• TORASİK AORTİK ANEVRİZMA AORTİK DİSEKSİYON TİP 4	DİZİ ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	30
73	ACE GENİ MUTASYON ANALİZİ	ACE	• KARDİYOVASKÜLER RİSK	JEL ELEKTROFOREZİ	EDTA'LI KAN	2-3ML	10
74	ALFA-1-ANTİTRİPSİN EKSİKLİĞİ	PROTEAZ İNHİBİTÖRÜ (Pİ)	• ALFA-1-ANTİTRİPSİN EKSİKLİĞİ (AAT)	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	10
75	APOE GENİ ALLEL ANALİZİ	APOE	• KARDİYOVASKÜLER RİSK	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	10
76	FGB GENİ MUTASYON ANALİZİ	FGB (BETA-FİBRİNOJEN) (455G>A)	• KARDİYOVASKÜLER RİSK	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	10
77	HLA GENİ MUTASYON ANALİZİ	HLA (DQ2, DQ8)	• ÇÖLYAK HASTALIĞI – GLUTEN İNTOLERANSI	REAL-TIME PCR	EDTA'LI KAN	2-3ML	10
78	FAKTÖR II GENİ MUTASYON ANALİZİ	FAKTÖR II (PROTROMBİN)	• KARDİYOVASKÜLER RİSK - FII EKSİKLİĞİ	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
79	FAKTÖR V MUTASYON ANALİZİ	FAKTÖR V (H1299R)	• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	7
80	FAKTÖR V LEİDEN MUTASYON ANALİZİ	FAKTÖR V	• KARDİYOVASKÜLER RİSK - FVL TROMBOFİLİSİ	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
81	FAKTÖR XIII MUTASYON ANALİZİ	FAKTÖR XIII (V34L)	• KARDİYOVASKÜLER RİSK - FXIII EKSİKLİĞİ	REAL-TIME PCR	EDTA'LI KAN	2-3ML	10
82	FSHB GENİ MUTASYON ANALİZİ	FSHB (211G>T)	• İNFERTİLİTE	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	15
83	DNA KİMLİKLENDİRME (FREEZING IONCESI)			FRAGMAN ANALİZİ	EDTA'LI KAN	2-3ML	15
84	HLAB27 GENİ MUTASYON ANALİZİ	HLAB27	• OTOİMMUN HASTALIKLAR	REAL-TIME PCR	EDTA'LI KAN	2-3ML	10
85	HPA1 GENİ ALLEL ANALİZİ	HPA1	• KARDİYOVASKÜLER RİSK	DİZİ ANALİZİ	EDTA'LI KAN	2-3ML	10
86	KARDİYOVASKÜLER RİSK PANELİ (12 MUTASYON)	FGB, HPA1, ACE, APOE, APOV, F13, F2, F5 LEIDEN, MTHFR A1298C, MTHFR C677T, PAI	• KARDİYOVASKÜLER RİSK	DİZİ ANALİZİ + REAL-TIME PCR	EDTA'LI KAN	2-3ML	15
87	MATERNAL KONTAMİNASYON TESTİ		• KONTAMİNASYON ELİMİNASYONU	FRAGMAN ANALİZİ	EDTA'LI KAN + ABORT/AS/CVS	2-3ML/5-20ML/2-3MG	15
88	MTHFR GENİ MUTASYON ANALİZİ	MTHFR (A1298C)	• KARDİYOVASKÜLER RİSK	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
89	MTHFR GENİ MUTASYON ANALİZİ	MTHFR (C677T)	• KARDİYOVASKÜLER RİSK	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
90	PAI-1 GENİ MUTASYON ANALİZİ	PAI-1 (4G/5G)	• KARDİYOVASKÜLER RİSK	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
91	TROMBOFİLİ PANELİ	FAKTÖR II, FAKTÖR V, MTHFR C677T, MTHFR A1298C	• KARDİYOVASKÜLER RİSK	REAL-TIME PCR	EDTA'LI KAN	2-3ML	7
92	Y KROMOZOM MİKRODELESYONU	Y KROMOZOMU (24 STR)	• İNFERTİLİTE	FRAGMAN ANALİZİ	EDTA'LI KAN	2-3ML	10
93	13, 18, 21, X VE Y KROMOZOMU HIZLI FISH	13, 18, 21, X VE Y KROMOZOMU	• KROMOZOMAL HASTALIK ŞÜPHESİ • İNFERTİLİTE	FISH ANALİZİ	EDTA'LI KAN/AS/CVS	2-3ML/5-20ML/2-3MG	3
94	SPERM FISH	13, 18, 21, X VE Y KROMOZOMU	• İNFERTİLİTE	FISH ANALİZİ	KONSANTRE SPERM		3-5
95	SPERM DNA FRAGMANTASYONU ANALİZİ		İNFERTİLİTE	TUNNEL TESTİ	KONSANTRE SPERM		15
96	MİKRODELESYON FISH - ALAGİLLE	JAG1 (20p12.2)	• ALAGİLLE SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
97	MİKRODELESYON FISH - CRİ-DU-CHAT	5p15.2	• CRİ-DU-CHAT SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
98	MİKRODELESYON FISH - DİGEORGE/VCFS	TUPLE1 (22q11.2)	• DİGEORGE/VCFS SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
99	MİKRODELESYON FISH - DİYAFRAGMA HERNİSİ	IGF1R (15q26)	• KONJENİTAL DİYAFRAGMATİK HERNİ	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
100	MİKRODELESYON FISH - KALLMANN	KAL1 (Xp22.3)	• KALLMANN SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
101	MİKRODELESYON FISH - NÖROFİBROMATOZİS	NF1 (17q11.2)	• NÖROFİBROMATOZİS TİP 1	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
102	MİKRODELESYON FISH - PRADER-WİLLİ/ANGELMAN	SNRPN (15q11.2)	• PRADER-WİLLİ/ANGELMAN SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
103	MİKRODELESYON FISH - SMİTH-MAGENİS	RAI1 (17p11.2)	• SMİTH-MAGENİS SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
104	MİKRODELESYON FISH - SOTOS	NSD1 (5q35)	• SOTOS SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
105	MİKRODELESYON FISH - WİLLİAMS-BEUREN	ELN (7q11.23)	• WİLLİAMS-BEUREN SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
106	MİKRODELESYON FISH - WOLF-HİRSCHHORN	WHSC (4516.3)	• WOLF-HİRSCHHORN SENDROMU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
107	MİKRODELESYON FISH - X İNAKTİVASYONU	XIST (Xq13.2)	• X İNAKTİVASYONU	FISH ANALİZİ	HEPARİNLİ KAN/AS/CVS	2-3ML/5-20ML/2-3MG	7
108	KİMERİZM ANALİZİ - FISH ANALİZİ İLE		• NAKİL SONRASI TRANSPLANTASYON BAŞARISI	FISH ANALİZİ	KAN (HEPARİN) / KEMİK İLİĞİ (HEPARİN)	2-3 ML	3-5
109	KEMİK İLİĞİ (Kİ) TRANSPLANTASYONU SONRASI		• NAKİL SONRASI TRANSPLANTASYON BAŞARISI	MOLEKÜLER	KAN (EDTALI) /KEMİK İLİĞİ (EDTALI)	2-3 ML	3-5
110	FISH ANALİZİ - EML4/ALK	EML4/ALK	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
111	FISH ANALİZİ - 1p/19q DELESYONLARI	1p36 & 19q13	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
112	FISH ANALİZİ - ATM TRANSLOKASYON	ATM (11q22.3)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
113	FISH ANALİZİ - RB1 DELESYON	RB1 (13q14)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
114	FISH ANALİZİ - 13q14.3 DELESYON	D13S319 (13q14.3)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
115	FISH ANALİZİ - LAMp1 TRANSLOKASYON	LAMp1 (13q34)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
116	FISH ANALİZİ - IGH TRANSLOKASYON	IGH (14q32)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
117	FISH ANALİZİ – IGF1R AMPLİFİKASYON VE DELESYON	IGF1R (15q26)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE	2-3 ML	7
118	FISH ANALİZİ - P53 DELESYON	P53 (17p13.1)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
119	FISH ANALİZİ – RARA TRANSLOKASYON	RARA (17q21)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
120	FISH ANALİZİ - MALT1 TRANSLOKASYON VE KROMOZOM 18 ANÖPLOİDİSİ	MALT1 (18q21)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), FFPE	2-3 ML	7
121	FISH ANALİZİ - 20/20q DELESYON	20q13.2	• AKUT MYELOİD LÖSEMİ (AML), • MYELODİSPLASTİK SENDROM (MDS), • POLİSİTEMİA VERA (PV) • PROGNOZ VE TEDAVİYE YANIT	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN)	2-3 ML	7
122	FISH ANALİZİ - AURKA	AURKA (20q13)	• KANSER	FISH ANALİZİ	FFPE		7
123	FISH ANALİZİ - EGR1 DELESYONU VEYA KROMOZOM 5 ANÖPLOİDİSİ	EGR1 (5q31)	• KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS)	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
124	FISH ANALİZİ - 7/7q DELESYONU VEYA KROMOZOM 7 ANÖPLOİDİSİ	7/7q- (7q31)	• KANSER, • MYELODİSPLASTİK SENDROMLAR (MDS)	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
125	FISH ANALİZİ - C-MYC AMPLİFİKASYON	C-MYC (8q24)	• KANSER, • BARRET ÖZOFAGUS	FISH ANALİZİ	FFPE, BRONŞİAL YIKAMA ÖRNEĞİ		7
126	FISH ANALİZİ - C-MET AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ	C-MET (7q31.2)	• KANSER	FISH ANALİZİ	FFPE		7
127	FISH ANALİZİ - EGFR AMPLİFİKASYONU VE KROMOZOM 7 ANÖPLOİDİSİ	EGFR (7p12)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
128	FISH ANALİZİ - FIP1L1/PDGFRA TRANSLOKASYON	FIP1L1/PDGFRA (4q12)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
129	FISH ANALİZİ - HER2/NEU AMPLİFİKASYON VE DELESYON	HER2/NEU (17q11.2-12) (C-ERBB2)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
130	FISH ANALİZİ - KROMOZOM 12 ANÖPLOİDİSİ	KROMOZOM 12	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
131	FISH ANALİZİ - KROMOZOM 8 ANÖPLOİDİSİ	KROMOZOM 8	• KANSER, • MYELODİSPLASTİK SENDROM (MDS)	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN)	2-3 ML	7
132	FISH ANALİZİ - N-MYC AMPLİFİKASYONU VE KROMOZOM 2 ANÖPLOİDİSİ	N-MYC (2p24.3)	• KANSER	FISH ANALİZİ	FFPE		7
133	FISH ANALİZİ - TEL/AML1 TRANSLOKASYON	TEL/AML1 (12q13.2 / 21q22.12)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
134	FISH ANALİZİ - MLL TRANSLOKASYON	MLL (11q23)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
135	FISH ANALİZİ - E2A (TCF3) TRANSLOKASYON	E2A (TCF3) (19p13.3)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), FFPE	2-3 ML	7
136	FISH ANALİZİ - EWSR1 TRANSLOKASYON	EWSR1 (22q12)	• KANSER	FISH ANALİZİ	FFPE		7
137	FISH ANALİZİ - CCND1/IGH TRANSLOKASYON VE FÜZYON	CCND1/IGH 11q13/14q32 t(11;14)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
138	FISH ANALİZİ - API2/MALT1 TRANSLOKASYON VE FÜZYON	API2/MALT1 11q21/18q21 t(11;18)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), FFPE	2-3 ML	7
139	FISH ANALİZİ - IGH/MAF TRANSLOKASYON VE FÜZYON	IGH/MAF 14q32/16q23 t(14;16)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
140	FISH ANALİZİ - IGH/BCL2 TRANSLOKASYON VE FÜZYON	IGH/BCL2 14q32/18q21 t(14;18)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
141	FISH ANALİZİ - PML/RARA TRANSLOKASYON VE FÜZYON	PML/RARA 15q22/17q21.1 t(15;17)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
142	FISH ANALİZİ - CBFB/MYH11 TRANSLOKASYON VE FÜZYON	CBFB (16q22) MYH11 (16p13.1) t(16;16)(p13;q22)	• KANSER, • EOZİNOFİLİK SENDROMLAR	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
143	FISH ANALİZİ – ALK TRANSLOKASYON VE FÜZYON	ALK (2p23)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
144	FISH ANALİZİ - IGH/FGFR3 TRANSLOKASYON VE FÜZYON	IGH/FGFR3 4p16.3/14q32.33 t(4;14)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
145	FISH ANALİZİ - IGH/MYC TRANSLOKASYON VE FÜZYON	MYC/IGH 8q24.21/14q32.33 t(8;14)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), FFPE	2-3 ML	7
146	FISH ANALİZİ - ETO/AML1 TRANSLOKASYON VE FÜZYON	ETO/AML1 8q21.3/21q22.12 t(8;21)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
147	FISH ANALİZİ - BCR/ABL TRANSLOKASYON VE FÜZYON	BCR/ABL 22q11.22/9q34.11 t(9;22)	• KANSER	FISH ANALİZİ	KEMİK İLİĞİ (HEPARİN), KAN (HEPARİN), FFPE	2-3 ML	7
148	FISH ANALİZİ - TOp2A AMPLİFİKASYON VE DELESYON	TOP2A (17q21.2)	• KANSER, • İLAÇ TEDAVİSİNE YANIT, • ANTRASİKLİNLER	FISH ANALİZİ	FFPE		7
149	FISH ANALİZİ - ROS1 TRANSLOKASYON	ROS1 (6q22.1)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
150	FISH ANALİZİ - PD-L1&2 (CD274) AMPLİFİKASYON VE DELESYON	PD-L1&2 (9p24.1)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	FISH ANALİZİ	FFPE		7
151	ABL1 GENİ MUTASYON ANALİZİ	ABL1 (EKZON 4, 5, 6)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA), FFPE	2-3 ML	15
152	BRAF GENİ MUTASYON ANALİZİ	BRAF (EKZON 11, 15)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	FFPE		10
153	BRAF + NRAS GENİ MUTASYON ANALİZİ	BRAF (EKZON 11, 15) + NRAS (EKZON 1, 2, 3)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	REAL-TIME PCR	KAN (STRECK) FFPE	10 ML	10
154	BRCA1 - BRCA2 GENİ MUTASYON ANALİZİ	BRCA1 (TÜM GEN) BRCA2 (TÜM GEN)	• KANSER • KANSER YATKINLIK • İLAÇ TEDAVİSİNE YANIT	NGS	KAN (EDTA), FFPE	2-3 ML	45
155	CHEK2 GENİ MUTASYON ANALİZİ	CHEK2 (EKZON 9, 10)	• KANSER, • Lİ-FRAUMENİ SENDROMU TİP II, • İLAÇ TEDAVİSİNE YANIT, • ANTRASİKLİNLER	DİZİ ANALİZİ	KAN (EDTA), FFPE	2-3 ML	10
156	EGFR GENİ MUTASYON ANALİZİ	EGFR (EKZON 18, 19, 20, 21)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	REAL-TIME PCR	FFPE KAN (STRECK)	10 ML	10
157	FLT3 GENİ MUTASYON ANALİZİ	FLT3 İNTERNAL TANDEM DUPLİKASYON (ITD) VE D835	• KANSER	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA)	2-3 ML	10
158	HRAS GENİ MUTASYON ANALİZİ	HRAS (EKZON 1, 2)	• KANSER	DİZİ ANALİZİ	FFPE		10
159	IDH1 GENİ MUTASYON ANALİZİ	IDH1 (EKZON 4)	• KANSER	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA) FFPE	2-3 ML	10
160	IDH2 GENİ MUTASYON ANALİZİ	IDH2 (EKZON 4)	• KANSER	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA) FFPE	2-3 ML	10
161	JAK2 GENİ MUTASYON ANALİZİ	JAK2 (V617F)	• KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • HİPEREOZİNOFİLİK SENDROM (HES), • MYELODİSPLASTİK SENDROMLAR (MDS), • POLİSİTEMİA VERA (PV), • İLAÇ TEDAVİSİNE YANIT, • RELAPS İZLEMİ	REAL-TIME PCR	KAN (EDTA), KEMİK İLİĞİ (EDTA)	2-3 ML	10
162	JAK2 GENİ MUTASYON ANALİZİ	JAK2 (EKZON 12)	• KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • HİPEREOZİNOFİLİK SENDROM (HES), • MYELODİSPLASTİK SENDROMLAR (MDS), • POLİSİTEMİA VERA (PV), • İLAÇ TEDAVİSİNE YANIT, • RELAPS İZLEMİ	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA)	2-3 ML	10
163	KIT GENİ MUTASYON ANALİZİ	KIT (EKZON 9, 11, 13, 17)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA), FFPE	2-3 ML	15
164	KİMERİZM ANALİZİ - PCR ANALİZİ İLE (ALICI - VERİCİ)		• KEMİK İLİĞİ NAKLİ SONRASI TRANSPLANTASYON BAŞARISI	FRAGMAN ANALİZİ	KAN (EDTA)	2-3 ML	10
165	KRAS GENİ MUTASYON ANALİZİ	KRAS (TÜM GEN)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	KAN (EDTA), FFPE	2-3 ML	21
166	KRAS GENİ MUTASYON ANALİZİ	KRAS (KODON 12, 13, 59, 61, 117, 146)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	REAL-TIME PCR	KAN (STRECK), FFPE	10 ML	10
167	KRAS + NRAS GENİ MUTASYON ANALİZİ	KRAS + NRAS (KODON 12, 13, 59, 61, 117, 146)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	REAL-TIME PCR	KAN (STRECK), FFPE	10 ML	10
168	MİKROSATELLİT İNSTABİLİTESİ (MSI)	DNA STR BÖLGELERİ	• HEREDİTER NONPOLİPOZİS KOLOREKTAL KANSER (HNPCC) MMR GEN ANALİZİ ÖNCESİNDE	FRAGMAN ANALİZİ	KAN (EDTA) FFPE	2-3 ML	15
169	MPL GENİ MUTASYON ANALİZİ	MPL (W515L/K VE S505N)	• KANSER, • ESANSİYEL TROMBOSİTEMİ (ET), • MYELOFİBROZİS İLE GİDEN MYELOİD METAPLAZİ	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA)	2-3 ML	10
170	NPM1 GENİ MUTASYON ANALİZİ	NPM1 (EKZON 12)	• KANSER	DİZİ ANALİZİ	KAN (EDTA), KEMİK İLİĞİ (EDTA)	2-3 ML	10
171	NRAS GENİ MUTASYON ANALİZİ	NRAS (KODON 12, 13, 59, 61, 117, 146)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	REAL-TIME PCR	KAN (STRECK), FFPE	10 ML	10
172	p16 GENİ MUTASYON ANALİZİ	p16 (TÜM GEN )	• KANSER	DİZİ ANALİZİ	FFPE		15
173	P53 GENİ MUTASYON ANALİZİ	P53 (EKZON 4, 5, 6, 7, 8, 9)	• Lİ FRAUMENİ SENDROMU TİP I, • KANSER	DİZİ ANALİZİ	FFPE		15
174	PDGFRA GENİ MUTASYON ANALİZİ	PDGFRA (12, 18, 19)	• KANSER, • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	FFPE		15
175	PDGFRB GENİ MUTASYON ANALİZİ	PDGFRB (EKZON 18, 19)	• KANSER • KOSAKİ SENDROMU • İNFANTİL MİYOFİBROMATOZİS	DİZİ ANALİZİ	FFPE		10
176	PIK3CA GENİ MUTASYON ANALİZİ	PIK3CA (EKZON 9, 20)	• KANSER	DİZİ ANALİZİ	FFPE		10
177	PTEN GENİ MUTASYON ANALİZİ	PTEN (TÜM GEN)	• KANSER • İLAÇ TEDAVİSİNE YANIT	DİZİ ANALİZİ	FFPE		21
178	BCR/ABL TRANSLOKASYONU	BCR-ABL t(9;22)	• KANSER	REAL-TIME PCR	KAN (EDTA) KEMİK İLİĞİ (EDTA)	2-3 ML	10
179	RET GENİ MUTASYON ANALİZİ	RET (EKZON 10, 11, 13, 14, 15, 16)	• KANSER • MULTİPLE ENDOKRİN NEOPLAZİ TİP 2A/2B (MEN2A/MEN2B)	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	15
180	DPYD GENİ MUTASYON ANALİZİ	DPYD (IVS14 + 1G>A, DPYD*2A)	• DPD EKSİKLİĞİ • 5-FLUOROURACİL TOKSİSİTESİ	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
181	UGT1A1 TEKRAR ANALİZİ	UGT1A1*28 (TATA BOX)	• İRİNOTEKAN TOKSİSİTESİ • KALITSAL HİPERBİLİRÜBİNEMİ • GILBERT SENDROMU	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
182	TPMT MUTASYON ANALİZİ (TPMT2, 3A, 3B, 3C ALLEL TESTİ)	TPMT (c.238, c.460, c.719)	• AZATHİOPRİNE TOKSİSİTESİ • 6-MERCAPTURİNE TOKSİSİTESİ • 6-THİOGUANİNE TOKSİSİTESİ	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
183	GSTM1 MUTASYON ANALİZİ (3 POLİMORFİZM)	GSTM1	• İLAÇ TOKSİSİTESİ • KANSER RİSK ANALİZİ	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
184	İLAÇ SENSİTİVİTE PANELİ - GENİŞ PANEL	CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	15
185	İLAÇ SENSİTİVİTE PANELİ - STANDART PANEL	CYP2D6, CYP2C9, CYP2C19	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	15
186	İLAÇ SENSİTİVİTE PANELİ - NÖROPSİKİYATRİ	CYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	15
187	İLAÇ SENSİTİVİTESİ - WARFARIN DOZ PANELİ	CYP2C9, VKORC1 (CYP2C9 2, 3, VKORC1 -1639G>A)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	15
188	İLAÇ SENSİTİVİTESİ - VKORC1 GENİ MUTASYON ANALİZİ	VKORC1 (-1639C>A)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
189	CYP2C19 GENİ MUTASYON ANALİZİ	CYP2C9( 1,2, 3, 4, *17)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
190	İLAÇ SENSİTİVİTESİ - CYP2D6 MUTASYON ANALİZİ	CYP2D6 (1, 2, 3, 4, 6, 7, 8, 9, 10, 11, 12, 14, 17, 29, 39, 41)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
191	CYP1A2 MUTASYON ANALİZİ (2 POLİMORFİZM: CYP1A2	CYP1A2 (1C, 1F)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
192	CYP3A4 MUTASYON ANALİZİ	CYP3A4 (*2)	• İLAÇ TEDAVİSİNE YANIT • DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
193	5HTT (SCL6A4) MUTASYON ANALİZİ	SCL6A4 (KISA ALLEL VEYA DELESYON)	• SSRI SENSİTİVİTESİ VE DOZ AYARLAMASI	DİZİ ANALİZİ	KAN (EDTA)	2-3 ML	10
194	PGT-M: SIK TEK GEN HASTALIKLARI (TALASEMİ, KİSTİK FİBROZİS. SMA, FMF, HLA TİPLEMESİ) AİLE MARKER ÇALIŞMASI İÇİN 15 GÜNLÜK SÜREYE İHTİYAÇ VARDIR.	• TALASEMİ: HBA1, HBA2, HBB • KİSTİK FİBROZ: CFTR • SMA: SMN1, SMN2 • FMF: MEFV • HLA TİPLEMESİ: HLA	• TEK GEN HASTALIĞI	DİZİ ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA)		6 HAFTA
195	PGT-M: NADİR TEK GEN HASTALIKLARI.	KURUMDAN BİLGİ ALINIZ.		DİZİ ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA)		8 HAFTA
196	HLA + TEK GEN HASTALIĞI (PGT-M)	HLA + TEK GEN HASTALIĞI		DİZİ ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ AİLE: KAN (EDTA)		8 HAFTA
197	EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 5 KROMOZOM	13, 16, 18, 21, 22 VEYA 13, 18, 21, X, Y KROMOZOMLARI	• SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ	FISH ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ		1-2
198	EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 7 KROMOZOM	13, 16, 18, 21, 22, X, Y KROMOZOMLARI	• SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ	FISH ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ		1-2
199	EMBRİYOLARDA FISH İLE ANÖPLOİDİ İNCELEMESİ – 9 KROMOZOM	13, 15, 16, 17, 18, 21, 22, X, Y KROMOZOMLARI	• SAYISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ	FISH ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ		1-2
200	FISH İNCELEMESİ - YAPISAL KROMOZOMAL HASTALIKLAR İÇİN		• YAPISAL KROMOZOM ANOMALİLERİ • RECİPROKAL TRANSLOKASYON • ROBERTSONİAN TRANSLOKASYON • İNSERSİYONEL TRANSLOKASYON • İNSERSİYONEL DELESYON • İNSERSİYONEL DUPLİKASYON • İNVERSİYON	FISH ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ		1-2
201	X KROMOZOMU İLE KALITILAN HASTALIKLARDA FISH İNCELEMESİ	X KROMOZOMU	• X-KROMOZOMU İLE AKTARILAN HASTALIKLAR	FISH ANALİZİ	EMBRİYO: 3. GÜN (BLASTOMER) VEYA 5. GÜN (TROFEKTODERM) BİYOPSİSİ		1-2
202	EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI (PGT-A)	24 KROMOZOM - SAYISAL VE YAPISAL KROMOZOM BOZUKLUKLARI (8 Mb VE ÜSTÜ)	• SAYISAL VE YAPISAL KROMOZOM ANOMALİLERİ • KLİNEFELTER, MOZAİK TURNER VB. • İLERİ MATERNAL YAŞ • TEKRARLAYAN GEBELİK KAYIPLARI • TEKRARLAYAN IVF BAŞARISIZLIĞI • ŞİDDETLİ GAMET MORFOLOJİSİ	NGS	5. GÜN (TROFEKTODERM) BİYOPSİSİ		15
203	EMBRİYOLARDA NGS İLE ANÖPLOİDİ TARAMASI – (PGT-A + PGT-SR)	24 KROMOZOM - TRANSLOKASYON, İNVERSİYON (8Mb VE ALTI)	ANNE VE/VEYA BABADA GÖZLENEN TRANSLOKASYON/INVERSIYON TAŞIYICILIĞI	NGS	5. GÜN (TROFEKTODERM) BİYOPSİSİ		3 HAFTA
204	NGS FOCUS 15	AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53	KANSER	NGS	FFPE
205	NGS FOCUS 77	ABL1, AKT1, AKT2, ALK, APC, AR, ARAF, BRAF, BRCA1, BRCA2, CCND1, CCND2, CCND3, CD274, CDK4, CDK6, CDKN2A, CSF1R, CTNNB1, DDR2, DPYD, EGFR, ERBB2, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT1, FLT3, FLT4, GATA3, GNA11, GNAQ, GNAS, IDH1, IDH2, JAK2, JAK3, KDR, KEAP1 , KIT, KRAS , MAP2K1, MAP2K2, MET, MLH1 , MSH2 , MSH6 , MTOR, NF2 , NFE2L2, NRAS, NTRK1, PDCD1LG2 , PDGFRA, PDGFRB, PIK3CA, PIK3R1, PMS2 , PTCH1, PTEN, RAF1, RB1 , RET, RNF43, ROS1, SMAD4 , SMO , STK11 , TP53, TERT Promoter, TSC1, TSC2, UGT1A1***, VHL	KANSER	NGS	FFPE
206	NGS FOCUS 77L	ABL1, AKT1, AKT2, ALK, APC, AR, ARAF, BRAF, BRCA1, BRCA2, CCND1, CCND2, CCND3, CD274, CDK4, CDK6, CDKN2A, CSF1R, CTNNB1, DDR2, DPYD, EGFR, ERBB2, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT1, FLT3, FLT4, GATA3, GNA11, GNAQ, GNAS, IDH1, IDH2, JAK2, JAK3, KDR, KEAP1 , KIT, KRAS , MAP2K1, MAP2K2, MET, MLH1 , MSH2 , MSH6 , MTOR, NF2 , NFE2L2, NRAS, NTRK1, PDCD1LG2 , PDGFRA, PDGFRB, PIK3CA, PIK3R1, PMS2 , PTCH1, PTEN, RAF1, RB1 , RET, RNF43, ROS1, SMAD4 , SMO , STK11 , TP53, TERT Promoter, TSC1, TSC2, UGT1A1***, VHL	KANSER	NGS	ctDNA
207	NGS FOCUS HEREDITER	ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2	KANSER YATKINLIK	NGS	KAN
208	NGS FOCUS CGP	DNA: ABL1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1(FAM123B), APC, AR, ARAF, ARFRP1, ARID1A, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXL, BAP1, BARD1, BCL2, BCL2L1, BCL2L2, BCL6, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTG2, BTK, C11ORF30(EMSY), CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD22, CD274(PD-L1), CD70, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CIC, CREBBP, CRKL, CSF1R, CSF3R, CTCF, CTNNA1, CTNNB1, CUL3, CUL4A, CXCR4, CYP17A1, DAXX, DDR1, DDR2, DIS3, DNMT3A, DOT1L, EED, EGFR, EP300, EPHA3, EPHB1, EPHB4, ERBB2, ERBB3, ERBB4, ERCC4, ERG, ERRFI1, ESR1, EZH2, FAM46C, FANCA, FANCC, FANCG, FANCL, FAS, FBXW7, FGF10, FGF12, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLT1, FLT3, FOXL2, FUBP1, GABRA6, GATA3, GATA4, GATA6, GID4(C17ORF39), GNA11, GNA13, GNAQ, GNAS, GRM3, GSK3B, H3F3A, HDAC1, HGF, HNF1A, HRAS, HSD3B1, ID3, IDH1, IDH2, IGF1R, IKBKE, IKZF1, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIT, KLHL6, KMT2A(MLL), KMT2D(MLL2), KRAS, LTK, LYN, MAF, MAP2K1(MEK1), MAP2K2(MEK2), MAP2K4, MAP3K1, MAP3K13, MAPK1, MCL1, MDM2, MDM4, MED12, MEF2B, MEN1, MERTK, MET, MITF, MKNK1, MLH1, MPL, MRE11A, MSH2, MSH3, MSH6, MST1R, MTAP, MTOR, MUTYH, MYC, MYCL(MYCL1), MYCN, MYD88, NBN, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NT5C2, NTRK1, NTRK2, NTRK3, P2RY8, PALB2, PARK2, PARP1, PARP2, PARP3, PAX5, PBRM1, PDCD1(PD-1), PDCD1LG2(PD-L2), PDGFRA, PDGFRB, PDK1, PIK3C2B, PIK3C2G, PIK3CA, PIK3CB, PIK3R1, PIM1, PMS2, POLD1, POLE, PPARG, PPP2R1A, PPP2R2A, PRDM1, PRKAR1A, PRKCI, PTCH1, PTEN, PTPN11, PTPRO, QKI, RAC1, RAD21, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RB1, RBM10, REL, RET, RICTOR, RNF43, ROS1, RPTOR, SDHA, SDHB, SDHC, SDHD, SETD2, SF3B1, SGK1, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SNCAIP, SOCS1, SOX2, SOX9, SPEN, SPOP, SRC, STAG2, STAT3, STK11, SUFU, SYK, TBX3, TEK, TET2, TGFBR2, TIPARP, TNFAIP3, TNFRSF14, TP53, TSC1, TSC2, TYRO3, U2AF1, VEGFA, VHL, WHSC1(MMSET), WHSC1L1, WT1, XPO1, XRCC2, ZNF217, ZNF703 RNA: ALK, BCL2, BCR, BRAF, BRCA1, BRCA2, CD74, EGFR, ETV4, ETV5, ETV6, EWSR1, EZR, FGFR1, FGFR2, FGFR3, KIT, KMT2A(MLL), MSH2, MYB, MYC, NOTCH2, NTRK1, NTRK2, NUTM1, PDGFRA, RAF1, RARA, RET, ROS1, RSPO2, SDC4, SLC34A2, TERC, TERT(PROMOTER-ONLY)*, TMPRSS2	KANSER	NGS	FFPE
209	NGS FOCUS TMB	1.65 Mb of DNA	KANSER	NGS	FFPE
210	NGS FOCUS 500	DNA: ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, ZRSR2 RNA: ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, MET, MLL, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, TMPRSS2	KANSER	NGS	FFPE
211	NGS FOCUS 500 HRD	NGS FOCUS 500 + HRD SKOR	KANSER	NGS	FFPE
212	NGS FOCUS RNA FUSION	ABI1, ABL1, ABL2, ACACA, ACE, ACER1, ACKR3, ACSL6, ADD3, AFF1, AFF3, AFF4, AGR3, AHI1, AHRR, ALK, ANKRD28, AR, ARHGAP20, ARHGAP26, ARNT, ASPSCR1, ASTN2, ATF1, ATIC, ATP1B4, AUTS2, BACH2, BAG4, BAIAP2L1, BAZ2A, BCAS3, BCAS4, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL3, BCL6, BCL9, BCOR, BCR, BDNF, BICC1, BIRC3, BIRC6, BRAF, BRD1, BRD3, BRD4, BRWD3, BTBD18, BTG1, C11orf1, C11orf95, C2CD2L, C3orf27, CAMTA1, CAPRIN1, CARS, CASC5, CASP7, CBFA2T3, CBFB, CBL, CCAR2, CCDC28A, CCDC6, CCDC88C, CCNB1IP1, CCNB3, CCND1, CCND2, CCND3, CD74, CDH11, CDK5RAP2, CDK6, CDX1, CDX2, CEBPA, CEBPB, CEBPD, CEBPE, CEP170B, CEP85L, CHD6, CHIC2, CHMP2B, CHST11, CIC, CIITA, CLP1, CLTC, CLTCL1, CMKLR1, CNBP, CNOT2, CNTRL, COG5, COL1A1, COL1A2, COL6A3, COX6C, CPSF6, CRADD, CREB1, CREB3L1, CREB3L2, CREBBP, CRLF2, CRTC1, CSF1, CSF1R, CTDSP2, CTNNB1, CUX1, DAB2IP, DACH1, DACH2, DDIT3, DDX10, DDX20, DEK, DMRT1, DNAJB1, DPM1, DUSP22, DUX4, EBF1, EEFSEC, EGFR, EGR1, EGR2, EGR3, EGR4, EIF4A2, ELF4, ELK4, ELL, ELN, EML1, EML4, EP300, EP400, EPC1, EPOR, EPS15, ERBB3, ERC1, ERCC1, ERG, ERLIN2, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZR, FAM19A2, FCGR2B, FCRL4, FEN1, FEV, FGF8, FGFR1, FGFR1OP, FGFR1OP2, FGFR2, FGFR3, FGFR4, FHIT, FIP1L1, FLI1, FLNA, FLT3, FLT3LG, FNBP1, FOSB, FOSL1, FOXO1, FOXO4, FOXP1, FRK, FRYL, FUS, GAS5, GAS7, GATA1, GIT2, GLI1, GOSR1, GOT1, GPR128, GPR34, GRHPR, GRID1, GTF2I, H2AFX, HAS2, HEY1, HHEX, HIP1, HIPK1, HIST1H4I, HLF, HMGA2, HNF1A, HOXA10, HOXA11, HOXA13, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HSP90AA1, ID4, IKZF1, IL2, IL21R, IL3, INPP5D, IQCG, IRF2BP2, IRF4, IRS4, ITK, JAK1, JAK2, JAZF1, KANK1, KAT6A, KAT6B, KDM5A, KIAA1524, KIF5B, KMT2A, KPNB1, KSR1, LASP1, LCK, LCP1, LGR5, LHFP, LHX2, LHX4, LINC00598, LINC00982, LMBRD1, LMO1, LMO2, LNP1, LPP, LPXN, LRMP, LRRC37B, LTBP1, LYL1, MACROD1, MAF, MAFB, MALT1, MAML2, MAPRE1, MBNL1, MBTD1, MDS2, MEAF6, MECOM, MGEA5, MKL1, MKL2, MLF1, MLLT1, MLLT10, MLLT11, MLLT3, MLLT4, MLLT6, MN1, MNX1, MSI2, MSN, MUC1, MUTYH, MYB, MYBL1, MYC, MYH11, MYH9, MYO18A, MYO1F, NAB2, NAPA, NBEAP1, NBR1, NCOA1, NCOA2, NCOA3, NDE1, NF1, NFATC2, NFIB, NGF, NGFR, NIN, NIPBL, NKX2-5, NONO, NOTCH1, NPM1, NR4A3, NR6A1, NSD1, NT5C2, NTF3, NTF4, NTRK1, NTRK2, NTRK3, NUMA1, NUP107, NUP214, NUP98, NUTM1, NUTM2A, NUTM2B, OFD1, OLIG2, OLR1, OMD, P2RY8, PAPPA, PATZ1, PAX3, PAX5, PAX7, PAX8, PBX1, PCM1, PDE4DIP, PDGFB, PDGFRA, PDGFRB, PER1, PHF1, PHF23, PICALM, PIM1, PLAG1, PML, POM121, POU2AF1, POU5F1, PPAP2B, PPARG, PPARGC1A, PPFIBP1, PPP2R1B, PRCC, PRDM16, PRKACA, PRKAR1A, PRKG2, PRRX2, PSIP1, PSMD2, PTPRR, PVT1, RABEP1, RAD51B, RAF1, RANBP2, RAP1GDS1, RARA, RBM15, RBM6, RCOR1, RCSD1, RET, RHOH, RNF213, ROS1, RPL22, RPN1, RREB1, RRM1, RTEL1, RUNX1, RUNX1T1, SARNP, SEC31A, SEPT2, SEPT5, SEPT6, SEPT9, SERPINE1, SERPINF1, SET, SETBP1, SFPQ, SH3D19, SH3GL1, SIK3, SLC34A2, SLC45A3, SLCO1B3, SMAP1, SMARCA5, SMARCB1, SNHG5, SORBS2, SORT1, SP3, SPECC1, SPTBN1, SQSTM1, SRF, SRSF3, SS18, SS18L1, SSBP2, SSX1, SSX2, SSX4, ST6GAL1, STAT5B, STAT6, STRN, SUGP2, SUZ12, SYK, TACC1, TACC2, TACC3, TAF15, TAL1, TAL2, TAOK1, TBX15, TCF12, TCF3, TCL1A, TCTA, TEAD1, TEAD2, TEAD3, TEAD4, TEC, TENM1, TET1, TFE3, TFG, TFPT, TFRC, TGFBR3, THADA, THRAP3, TIRAP, TLX1, TLX3, TMPRSS2, TNFRSF17, TOP1, TOP2B, TP53BP1, TPM3, TPM4, TRHDE, TRIM24, TRIP11, TRPS1, USP16, USP42, USP6, VGLL3, WASF2, WDR18, WDR70, WHSC1, WHSC1L1, WSB1, WT1, WWTR1, XIAP, YAP1, YTHDF2, YWHAE, ZBTB16, ZC3H7A, ZC3H7B, ZFP64, ZFPM2, ZFYVE19, ZMIZ1, ZMYM2, ZMYND11, ZNF207, ZNF384, ZNF444, ZNF521, ZNF585B, ZNF687	KANSER	NGS	FFPE

* In order for PGD to be performed in single gene diseases, the clinical diagnosis of the disease in the family must be established and the mutation must be identified by genetic testing.
* If the mutation has not been identified, additional time is needed to identify the mutation by examining the disease-causing gene (in a domestic or foreign center).
* If a mutation has been identified, it is mandatory to perform set-up for mutations that fall into the other disease group in our list before IVF and PGD.

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