Test List

NESİLLER GENETİK TEST LIST

TEST ID	TEST CATEGORY	TEST NAME	INDICATIONS	SAMPLE TYPE	AMOUNT (min)	RESULT RETURN (days)	ANALYSIS METHOD
1	CYTOGENETICS	Chromosomal Analysis - Blood	Suspicion of Chromosomal Disease • Multiple Congenital Abnormality • Mental retardation • Recurrent pregnancy loss • Infertility	Peripheric blood (with heparin)	2-3 ml	15	Cell Culture
2	CYTOGENETICS	Chromosomal Analysis - AS	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Amniotic fluid	15-20ml	21	Cell Culture
3	CYTOGENETICS	Chromosomal Analysis - AS (twins)	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Amniotic fluid	15-20ml	21	Cell Culture
4	CYTOGENETICS	Chromosomal Analysis - CVS	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Chorionic villus	30-50μg	21	Cell Culture
5	CYTOGENETICS	Chromosomal Analysis - Cord	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Cord blood (with heparin)	2-3ml	7	Cell Culture
6	CYTOGENETICS	Chromosomal Analysis - Abortus	Suspicion of Chromosomal Disease • Multiple Congenital Abnormality • Recurrent pregnancy loss	Abortus material	30-50μg	21	Cell Culture
7	CYTOGENETICS	Chromosomal Analysis - Skin tissue	Suspicion of Chromosomal Disease • Multiple Congenital Abnormality • Mental retardation • Recurrent pregnancy loss • Infertility	Skin tissue	30-50μg	21	Cell Culture
8	CYTOGENETICS	Chromosomal Analysis + rapid FISH - AS	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Amniotic fluid	15-20ml	2 + 21	Cell Culture
9	CYTOGENETICS	Chromosomal Analysis + rapid FISH - CVS	Suspicion of Chromosomal Disease • Pathological USG • Maternal age • Abnormal triple test	Chorionic villus	30-50μg	2 + 21	Cell Culture
10	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Molecular Karyotyping (aCGH - microarray) – Single sample* (750k)**	Unidentified Genetic Diseases (Chromosomal Analysis normal) • MR • MMR • Multiple Congenital Abnormality	Peripheric blood (EDTA) Cord blood (EDTA) Amniocenteses CVS	5-6 ml 5-6 ml 10 ml 15 mg	15	aCGH
11	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	5α-Redüktaz insufficiency TYPE2 - SRD5A2 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
12	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Adenosine Deaminase Deficiency - ADA (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
13	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Achondroplasia - FGFR3 (exon 10)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
14	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Achondroplasia - FGFR3 (exon 9,10,13,15)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
15	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Alfa Thalassemia - HBA1&HBA2 (del.&dupl.)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
16	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Amyotropic Lateral Sclerosis (ALS) – SOD1 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
17	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Beta Thalassemia - HBB (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
18	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Blackfan-Diamond Anemia - RPS19 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
19	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	CADASIL - NOTCH3 (exon 3,4)	Single Gene Disease	Blood with EDTA	2-3ml	15	Sequence Analysis
20	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	CADASIL - NOTCH3 (exon 3,4,11,18,19)	Single Gene Disease	Blood with EDTA	2-3ml	30	Sequence Analysis
21	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Canavan - ASPA DNA Analysis (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
22	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Charcot-Marie-Tooth - MPZ (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
23	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Charcot-Marie-Tooth (CMT1A) - PMP22 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
24	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Charcot-Marie-Tooth (CMT1A) - PMP22 dupl.	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
25	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cold-Induced Sweating Syndrome TYPE1 - CRLF1 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
26	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Distonia (DYT1) – TOR1A1 (GAG Deletion)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
27	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	DMD/BMD - Dystrophin (79 exon del.&dupl.)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
28	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Exome Sequencing	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	60	NGS
29	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Fabry Disease- GLA (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
30	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Factor XII (HAE) mutation analysis	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
31	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Phenylketonuria Disease - PKU (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
32	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	FMF - MEFV (12 mutation)	Single Gene Disease	Blood with EDTA	2-3ml	10	Sequence Analysis
33	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	FMF - MEFV (50 mutation)	Single Gene Disease	Blood with EDTA	2-3ml	15	Sequence Analysis
34	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	FMF - MEFV (122 mutation)	Single Gene Disease	Blood with EDTA	2-3ml	12	Sequence Analysis
35	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	FMF - MEFV (whole gene)	Single Gene Disease	Blood with EDTA	2-3ml	21	Sequence Analysis
36	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Fragile X - FMR1 (CGG recurrence)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
37	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	G6PD Insufficiency - G6PD (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
38	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Galactokinase - GALK1 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
39	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Galactosemia DNA Analysis - GALT (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
40	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Griscelli Syndrome TYPE2 – RAB27A (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
41	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	GSD Type1A (Von Gierke) - G6PC (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
42	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	GSD Type1B/1C - SLC37A4 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
43	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hemophilia B Disease - F9 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
44	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hemochromatosis - H63D and C282Y	Single Gene Disease	Blood with EDTA	2-3ml	10	Sequence Analysis
45	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hypochondroplasia - FGFR3 (exon 10)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
46	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hypochondroplasia - FGFR3 (exon 9,10,13,15)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
47	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hypoparathyroidism-Deafness-renal displasia - GATA3 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
48	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hunter Syndrome - IDUA (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
49	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Hurler Syndrome - IDS (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
50	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	HDR Syndrome – GATA3 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
51	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cardiofaciocutaneous - BRAF (exon 6, 11-16)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
52	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cardiofaciocutaneous - MEK1 (exon 2,3)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
53	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cardiofaciocutaneous - MEK2 (exon 1, 2 and3)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
54	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (19 mutation)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
55	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (36 mutation)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
56	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (550 mutation)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	15	Sequence Analysis
57	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (del&dupl.)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
58	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (deltaF508)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	7	Sequence Analysis
59	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Cystic Fibrosis - CFTR (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	NGS
60	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Congenital Myastenik Syndrome - CHRNE (exon 11&12)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
61	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Congenital deafness - Conneksin 26 (exon 2)	Single Gene Disease	Blood with EDTA	2-3ml	15	Sequence Analysis
62	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Congenital deafness - GJB1 (whole gene)	Single Gene Disease	Blood with EDTA	2-3ml	15	Sequence Analysis
63	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	LHON mutation analysis - MTND genleri (A52T, R340H,M64V)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
64	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	LymphoproliferatiandSyndrome - SH2D1A (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Sequence Analysis
65	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Marfan Syndrome (FBN1)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	NGS
66	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Metachromatic Leukodystrophy - ARSA (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
67	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Mukopolisakkaridozis TYPE II - IDS (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
68	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Mukopolisakkaridozis TYPE IVA - GALNS (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
69	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Niemann-Pick Syndrome – SMPD (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
70	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Neutropenia – ELA2 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
71	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Sickle Cell Anemia	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
72	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Osteopetrosis Disease - CLCN7 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
73	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Osteopetrosis Disease - OSTM1 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
74	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Osteopetrosis Disease - TCIRG (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
75	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Pena Shokeir Syndrome – DOK7 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
76	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Pena Shokeir Syndrome - RAPSN (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
77	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Rett Syndrome - MECP2 (del.&dupl.)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
78	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Rett Syndrome - MECP2 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
79	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Shwachman-Diamond Syndrome – SBDS (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
80	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Sialidase (Neuroaminidase) - Neu1 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
81	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Smith-Lemli-Opitz - DHCR7 (tum gen)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	45	Sequence Analysis
82	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Spinal Muscular Atrophy (SMA) - SMN1	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
83	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Spinal Muscular Atrophy (SMA) carrier testing - SMN1	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	21	Fragment Analysis
84	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Thanatophoric displasia - FGFR3 (exon 10, 15)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	10	Sequence Analysis
85	MOLECULAR GENETICS - MOLECULAR KARYOTYPING	Thoracic Aortic Aneurysm + Aortic Dissection TYPE 4 - ACTA2 (whole gene)	Single Gene Disease	Blood with EDTA/AS/CVS	2-3ml	30	Sequence Analysis
86	MOLECULAR GENETICS - DNA DISEASES	ACE mutation analysis - I/D	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
87	MOLECULAR GENETICS - DNA DISEASES	Alfa-1-Antitripsin insufficiency (AAT)	Predisposition	Blood with EDTA	2-3ml	10	Sequence Analysis
88	MOLECULAR GENETICS - DNA DISEASES	ApoE - e2, e3 and e4 allels	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
89	MOLECULAR GENETICS - DNA DISEASES	Beta-fibrinogen mutation analysis - -455G>A	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
90	MOLECULAR GENETICS - DNA DISEASES	Celiac Disease – HLA (DQ2 andDQ8)	Gluten intolerance	Blood with EDTA	2-3ml	10	Gel Electrophoresis
91	MOLECULAR GENETICS - DNA DISEASES	Factor II (protrombin) mutation analysis	Cardiovascular Risk	Blood with EDTA	2-3ml	7	Sequence Analysis
92	MOLECULAR GENETICS - DNA DISEASES	Factor V leiden mutation analysis	Cardiovascular Risk	Blood with EDTA	2-3ml	7	Sequence Analysis
93	MOLECULAR GENETICS - DNA DISEASES	Factor XIII mutation analysis - V34L)-	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
94	MOLECULAR GENETICS - DNA DISEASES	FSHB mutation analysis – -211G>T	Infertility	Blood with EDTA	2-3ml	15	Sequence Analysis
95	MOLECULAR GENETICS - DNA DISEASES	Genotyping (Before freezing)		Blood with EDTA	2-3ml	15	Fragment Analysis
96	MOLECULAR GENETICS - DNA DISEASES	HLAB27	Autoimmune Diseases	Blood with EDTA	2-3ml	10	Gel Electrophoresis
97	MOLECULAR GENETICS - DNA DISEASES	HPA1 DNA Analysis - a/b	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
98	MOLECULAR GENETICS - DNA DISEASES	Cardiovascular Risk Panel - 12 mutation	Cardiovascular Risk	Blood with EDTA	2-3ml	15	Sequence Analysis
99	MOLECULAR GENETICS - DNA DISEASES	Maternal contamination test	Contamination elimination	Blood with EDTA	2-3ml	15	Fragment Analysis
100	MOLECULAR GENETICS - DNA DISEASES	MTHFR mutation analysis - A1298C	Cardiovascular Risk	Blood with EDTA	2-3ml	7	Sequence Analysis
101	MOLECULAR GENETICS - DNA DISEASES	MTHFR mutation analysis - C677T	Cardiovascular Risk	Blood with EDTA	2-3ml	7	Sequence Analysis
102	MOLECULAR GENETICS - DNA DISEASES	PAI-1 DNA Analysis - 4G/5G	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
103	MOLECULAR GENETICS - DNA DISEASES	Thrombophilia Panel (Factor II/Factor V/MTHFR) 3 Mutation	Cardiovascular Risk	Blood with EDTA	2-3ml	7	Sequence Analysis
104	MOLECULAR GENETICS - DNA DISEASES	Thrombophilia Panel (Factor II/Factor V/MTHFR) 4 Mutation	Cardiovascular Risk	Blood with EDTA	2-3ml	10	Sequence Analysis
105	MOLECULAR GENETICS - DNA DISEASES	Chromosome Y micro-deletion - 24 STR	Infertility	Blood with EDTA	2-3ml	10	Gel Electrophoresis
106	MOLECULAR GENETICS - DNA DISEASES	EpiProcolon	Colon Cancer Scanning	Blood with EDTA	10 ml	15	Real Time PCR
107	MOLECULAR GENETICS - DNA DISEASES	3GenTest	Suspicion of Chromosomal Disease • Pathological USG • Maternal age	Maternal	10 ml	15	NGS
108	MOLECULAR CYTOGENETICS	FISH - rapid FISH 13, 18, 21, X andY	Suspicion of Chromosomal Disease	Amniyon/Chorionic villus	2-3 ml	3	FISH analysis
109	MOLECULAR CYTOGENETICS	FISH - sperm FISH 13, 18, 21, X andY	Infertility	Concentrated sperm		15	FISH analysis
110	MOLECULAR CYTOGENETICS	FISH - DNA fragmentation Tunnel Testi	Infertility	Concentrated sperm		15	FISH analysis
111	MOLECULAR CYTOGENETICS	Microdeletion FISH - Alagille JAG1 (20p12.2)	Alagille Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
112	MOLECULAR CYTOGENETICS	Microdeletion FISH - Cri-du-Chat 5p15.2	Cri-du-Chat Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
113	MOLECULAR CYTOGENETICS	Microdeletion FISH - DiGeorge/VCFS Tuple1 (22q11.2)	DiGeorge/VCFS Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
114	MOLECULAR CYTOGENETICS	Microdeletion FISH - Diaphragmatic Hernia IGF1R (15q26)	Congenital Diaphragmatic Hernia	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
115	MOLECULAR CYTOGENETICS	Microdeletion FISH - Kallmann KAL1 (Xp22.3)	Kallmann Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
116	MOLECULAR CYTOGENETICS	Microdeletion FISH - Neurofibromatosis NF1 (17q11.2)	Neurofibromatosis Type 1	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
117	MOLECULAR CYTOGENETICS	Microdeletion FISH - Prader-Willi/Angelman SNRPN (15q11.2)	Prader-Willi/Angelman Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
118	MOLECULAR CYTOGENETICS	Microdeletion FISH - Smith-Magenis RAI1 (17p11.2)	Smith-Magenis Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
119	MOLECULAR CYTOGENETICS	Microdeletion FISH - Sotos NSD1 (5q35)	Sotos Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
120	MOLECULAR CYTOGENETICS	Microdeletion FISH - Williams-Beuren ELN (7q11.23)	Williams-Beuren Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
121	MOLECULAR CYTOGENETICS	Microdeletion FISH - Wolf-Hirschhorn WHSC (4516.3)	Wolf-Hirschhorn Syndrome	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
122	MOLECULAR CYTOGENETICS	Microdeletion FISH - X Inactivation XIST (Xq13.2)	X Inactivation	Blood with heparin/AS/CVS	2-3 ml	7	FISH analysis
123	ONCOLOGY	Chromosomal Analysis	Hematological Cancers	Bond marrow (heparin) Blood (heparin)	2-3 ml	14	Cell Culture
124	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	Chimerism analysis - with FISH analysis Post Bond Marrow Transplantation	Post-op Transplantation Success	Bond marrow (heparin) Blood (heparin)	2-3 ml	3	FISH analysis
125	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - EML4/ALK	Respond to Medication	Fresh tumor tissue Paraffin Block		7	FISH analysis
126	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 1p36&19q13 Gliomas 1p36 and 19q13 deletions	Respond to Medication	Fresh tumor tissue Paraffin Block		7	FISH analysis
127	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 11q22.3 (ATM) Chronic Lymphocytic Leukemia (CLL) Rearrangement and translocation	CLL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
128	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 13q14 (RB1) Retinoblastoma (RB) Multiple Myeloma (MM) Deletion in RB1 gene	RB and MM diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Fresh tumor tissue Paraffin Block	2-3 ml	7	FISH analysis
129	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 13q14.3 (D13S319) Chronic Lymphocytic Leukemia (CLL) Multiple Myeloma (MM) Deletion in 13q14.3 gene area	KLL and MM diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
130	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 13q34 (LAMP1) Chronic Lymphocytic Leukemia (CLL) Rearrangement and translocation	CLL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
131	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 14q32 (IGH) Chronic Lymphocytic Leukemia (CLL) Multiple Myeloma (MM) Non-Hodgkin Lymphoma (NHL) Rearrangement and translocation	KLL, MM and NHL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
132	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis – 15q26 (IGF1R) Lung Cancer Breast Cancer GIST IGF1R amplification and Deletion	Respond to Medication Tyrosine Kinase Inhibitors (TKIs)	Fresh tumor tissue Paraffin Block	2-3 ml	7	FISH analysis
133	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 17p13.1 (p53) Chronic Lymphocytic Leukemia (CLL) Multiple Myeloma (MM) Non-Hodgkin Lymphoma (NHL) Glioma Deletion in P53 gene	KLL, MM and NHL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
134	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis – 17q21 (RARA) Acute Myeloid Leukemia (AML) Rearrangement and translocation	AML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
135	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 18q21 (MALT1) Malt Lymphoma Non-Hodgkin Lymphoma (NHL) Translocations and chromosome 18 aneuploidy	Malt Lymphoma and NHL diagnosis and follow-up	Bond marrow (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
136	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 20q- Acute Myeloid Leukemia (AML) Myelodysplastic Syndrome (MDS) Polisitemia Vera (PV) 20q13.2 or 20q deletion	AML, MDS, PV Prognosis and respond to remedy	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
137	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 20q13 (AURKA) Breast Cancer Colon cancer Brain tumor Bladder cancer Head-neck cancer Endometrium cancer	Prognosis	Fresh tumor tissue Paraffin Block		7	FISH analysis
138	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 5/5q- (EGR1) Acute Myeloid Leukemia (AML) Myelodysplastic Syndrome (MDS) 5q31 or chromosome 5 aneuploidy	AML and MDS diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
139	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 7/7q- (7q31) Acute Myeloid Leukemia (AML) Myelodyplastic Syndrome (MDS) 7q31 or chromosome 7 aneuploidy	AML and MDS diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
140	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - 8q24 (C-myc) [t(2;8), t(8;22), t(8;14)] Breast Cancer Lung Cancer Oesophagus Cancer Barret Oesophagus 8q24 amplification	Prognosis	Fresh tumor tissue Paraffin Block Bronchial Washing Sample		7	FISH analysis
141	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - C-MET (7q31.2) Breast Cancer Lung Cancer Ovarian Cancer Tiroid, Mide, Pankreas andColon cancer 7q31.2 amplification andchromosome 7 anöploidisi	Prognosis	Fresh tumor tissue Paraffin Block		7	FISH analysis
142	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - EGFR (7p12) Lung Cancer Colorectal Cancers Breast Cancer Glioma 7p12 amplification and chromosome 7 aneuploidy	Respond to Medication	Fresh tumor tissue Paraffin Block		7	FISH analysis
143	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - FIP1L1/PDGFRA (4q12) Chronic Myeloid Leukemia (CML) Hypereosinophilic Syndrome (HES) Chronic Eosinophilic Leukemia (CEL) Translocations	KML, HES and KEL Diagnosis Respond to Medication Gleevec (Imatinib)	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
144	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - Her2/neu (17q11.2-12) Breast Cancer Gastric Cancer c-erbB2 amplification and deletion	Respond to Medication Herceptin (Trastuzumab)	Fresh tumor tissue Paraffin Block		7	FISH analysis
145	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - Chromosome 12 (+12) Chronic Lymphocytic Leukemia (CLL) Chromosome 12 aneuploidy	CLL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
146	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - chromosome 8 (+8) Acute Myeloid Leukemia (AML) Chronic Myeloid Leukemia (CML) Myelodysplastic Syndrome (MDS) Chromosome 8 aneuploidy	AML, CML and MDS diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
147	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - N-MYC (2p24.3) Neuroblastoma 2p24.3 amplification and chromosome 2 aneuploidy	Prognosis	Fresh tumor tissue Paraffin Block		7	FISH analysis
148	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t (12;21) (TEL/AML1) Pediatric B-ALL Acute Myeloid Leukemia (AML) Myelodysplastic Syndrome (MDS) 12q13.2 ile 21q22.12 translocation and fusion	Pediatric B-ALL, AML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
149	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(?;11q23) (MLL) [t(4;11), t(9;11), t(11;19)] Acute Lymphocytic Leukemia (ALL) Acute Myeloid Leukemia (AML) 11q23 readjustment and translocations	ALL andAML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
150	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(?;19p13.3) (E2A )(TCF3) [t(1;19), t(17;19)] Pediatric B-ALL 19p13.3 readjustment and translocations	Pediatric B-ALL diagnosis and follow-up	Bond marrow (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
151	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(?;22q12) (EWSR1) t(11;22), t(21;22), t(7;22), t(12;22) Ewing Sarkoma 22q12 readjustment and translocations	Prognosis	Fresh tumor tissue Paraffin Block		7	FISH analysis
152	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(11;14) (CCND1/IGH) Chronic Lymphocytic Leukemia (CLL) Multiple Myeloma (MM) Non-Hodgkin Lymphoma (NHL) 11q13 and 14q32 translocation and fusion	KLL, MM andNHL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
153	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(11;18) (API2/MALT1) Non-Hodgkin Lymphoma (NHL) 11q21 and 18q21 translocation and fusion	NHL diagnosis and follow-up	Bond marrow (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
154	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(14;16) (IGH/MAF) Multiple Myeloma (MM) 14q32 and 16q23 translocation and fusion	MM diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
155	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(14;18) (IGH/BCL2) Non-Hodgkin Lymphoma (NHL) 14q32 and 18q21 translocation and fusion	NHL diagnosis and follow-up	Bond marrow (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
156	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(15;17) (PML/RARA) Acute Myeloid Leukemia (AML) 15q22 and 17q21 translocation and fusion	AML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
157	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(16;16) and inv(16) (CBFB) Acute Myeloid Leukemia (AML) Eosinophilic Syndrome translocation and inversion between 16p13 and 16q22	AML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
158	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis – t(2;2), t(2;5) (ALK) Chronic Lymphocytic Leukemia (CLL) Multiple Myeloma (MM) Non-Hodgkin Lymphoma (NHL) 11q13 and 14q32 translocation and fusion	KLL, MM and NHL diagnosis and follow-up	Bond marrow (heparin) Blood (heparin) Lymphoid tissue Fresh tumor tissue Paraffin Block	2-3 ml	7	FISH analysis
159	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(4;14) (IGH/FGFR3) Multiple Myeloma (MM) 4p16 and 14q32 translocation	MM diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
160	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(8;14) (IGH/MYC) Acute Lymphocytic Leukemia (ALL) Non-Hodgkin Lymphoma (NHL) 8q24 ile 14q32 translocation and fusion	ALL and NHL diagnosis and follow-up	Bond marrow (heparin) Lymphoid tissue	2-3 ml	7	FISH analysis
161	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(8;21) (ETO/AML1) Acute Myeloid Leukemia (AML) 21q22 ile 8q22 translocation and fusion	AML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
162	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - t(9;22) (BCR/ABL) Acute Lymphocytic Leukemia (ALL) Acute Myeloid Leukemia (AML) Chronic Myeloid Leukemia (CML) 22q11.2 and 9q34 translocation and fusion	KML, ALL andAML diagnosis and follow-up	Bond marrow (heparin) Blood (heparin)	2-3 ml	7	FISH analysis
163	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - Top2A (17q21-22) Breast Cancer Topoisomerase II-alpha amplification and deletion	Respond to Medication Anthracyclines	Fresh tumor tissue Paraffin Block		7	FISH analysis
164	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - ROS1 (6q22.1)	Respond to Medication	Fresh tumor tissue Paraffin Block		7	FISH analysis
165	ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)	FISH analysis - PD-L1&2	Respond to Medication	Fresh tumor tissue Paraffin Block		7	FISH analysis
166	MOLECULAR GENETICS	ABL1 DNA Analysis - T315I mutation Different types of leukemia Acute Leukemia Chronic Myeloid Leukemia	Respond to Medication Gleevec (Imatinib) Sprycel (Dasatinib) Nilotinib (Tasigna)	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
167	MOLECULAR GENETICS	ABL1 DNA Analysis - exon 4, 5, 6, 7, 8, 9 and 10 Different types of leukemia Acute Leukemia Chronic Myeloid Leukemia	Respond to Medication Gleevec (Imatinib) Sprycel (Dasatinib) Nilotinib (Tasigna)	blood (EDTA) bond marrow (EDTA)	2-3 ml	15	DNA Analysis
168	MOLECULAR GENETICS	Braf DNA Analysis – exon 11 and 15 Colorectal Cancers Lung Cancer Malign Melanoma Non-Small Cell Lung Cancer (NSCLC) Papiller Thyroid Cancer Non Hodgkin Lymphoma(NHL)	Respond to EGFR inhibitor (TKIs) remedy Erbitux (Cetuximab) Vectibix (Panitumumab)	Lymphoid tissue bond marrow (EDTA)	2-3 ml	10	DNA Analysis
169	MOLECULAR GENETICS	Braf DNA Analysis – exon 11 and 15, and NRAS exon 1,2,3 together Colorectal Cancers Lung Cancer Malign Melanoma Gastric Cancer Non-Small Cell Lung Cancer (NSCLC) Papiller Thyroid Cancer Non Hodgkin Lymphoma(NHL)	Respond to EGFR inhibitor (TKIs) remedy Erbitux (Cetuximab) Vectibix (Panitumumab)	Lymphoid tissue bond marrow (EDTA)	2-3 ml	10	DNA Analysis veya Real Time PCR
170	MOLECULAR GENETICS	Braf DNA Analysis - exon 15 (including codon 600) Colorectal Cancers Lung Cancer Malign Melanoma Non-Small Cell Lung Cancer (NSCLC) Papiller Thyroid Cancer Non Hodgkin Lymphoma(NHL)	Respond to EGFR inhibitor (TKIs) remedy Erbitux (Cetuximab) Vectibix (Panitumumab)	Fresh tumor tissue Paraffin Block Lymphoid tissue		10	DNA Analysis
171	MOLECULAR GENETICS	BRCA1 and BRCA2 DNA Analysis - whole gene Breast Cancer Ovarian Cancer Prostate Cancer	Diagnosis	blood (EDTA)	2-3 ml	45	NGS
172	MOLECULAR GENETICS	BRCA Hereditary Cancer New Generation Sequencing (ATM, BARD1, BRCA1, BRCA2, CDH1, MEN1, MLH1, MSH2, MSH6, NBN)	Diagnosis	blood (EDTA)	2-3 ml	60	NGS
173	MOLECULAR GENETICS	CHEK2 DNA Analysis - exon 9 and 10 Breast Cancer Li-Fraumeni Syndrome Type II	Respond to Medication Anthracyclines	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	10	DNA Analysis
174	MOLECULAR GENETICS	EGF – exon 1 (including 61A>G) Colorectal Cancers Lung Cancer	Respond to Medication First-line capecitabine + oxaliplatin (Xelox) Third-line irinotecan + cetuximab	Fresh tumor tissue Paraffin Block		10	DNA Analysis
175	MOLECULAR GENETICS	EGFR DNA Analysis - exon 18, 19, 20, 21 Non-Small Cell Lung Cancer (NSCLC) Head-Neck Tumors Breast Cancer (Sporadic) Gastric Cancer Colorectal Cancers Oesophageal Cancer	Respond to Medication Iressa (Gefitinib) Tarceva (Erlotinib)	Fresh tumor tissue Paraffin Block		15	DNA Analysis
176	MOLECULAR GENETICS	EGFR DNA Analysis (from blood) - exon 18, 19, 20, 21 Non-Small Cell Lung Cancer (NSCLC) Head-Neck Tumors Breast Cancer (Sporadic) Gastric Cancer Colorectal Cancers Oesophageal Cancer	Respond to Medication Iressa (Gefitinib) Tarceva (Erlotinib)	blood (EDTA)	10 ml	10	Real Time PCR
177	MOLECULAR GENETICS	FLT3 - ITD andD835 Acute Myeloid Leukemia (AML)	AML diagnosis and follow-up	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
178	MOLECULAR GENETICS	HRAS DNA Analysis (exon 1 and 2) Thyroid Cancer Lung Cancer Malign Melanoma	Different types of cancer	Fresh tumor tissue Paraffin Block		10	DNA Analysis
179	MOLECULAR GENETICS	IDH1 DNA Analysis (exon 4) Acute Myeloid Leukemia (AML)	AML Prognosis	blood (EDTA) bond marrow (EDTA)		10	DNA Analysis
180	MOLECULAR GENETICS	IDH2 DNA Analysis (exon 4) Acute Myeloid Leukemia (AML)	AML Prognosis	blood (EDTA) bond marrow (EDTA)		10	DNA Analysis
181	MOLECULAR GENETICS	JAK2 DNA Analysis - V617F mutation Essential Thrombocythemia (ET) Hypereosinophilic Syndrome (HES) Chronic Myelomonocytic Leukemia (CMML) Myelodyplastic Syndrome (MDS) Myeloid Metaplasia going with Myelofibrosis Neutrophilic Leukemia (NL) Polisitemia Vera (PV) Mast Cell Leukemia Mastositosis	Different types of cancer Respond to Medication follow-up Relapse follow-up	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
182	MOLECULAR GENETICS	KIT DNA Analysis - exon 11 and 17 Acute Myeloid Leukemia (AML) Malign Melanomaa	Respond to Medication Gleevec (Imatinib)	blood (EDTA) bond marrow (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	10	DNA Analysis
183	MOLECULAR GENETICS	KIT DNA Analysis - exon 11 Gastrointestinal Tumors (GIST) Malign Melanoma	Respond to Medication Gleevec (Imatinib)	Fresh tumor tissue Paraffin Block		10	DNA Analysis
184	MOLECULAR GENETICS	KIT DNA Analysis - exon 17 Gastrointestinal Tumors (GIST) Mast Cell Leukemia Mastositosis Acute Myeloid Leukemia (AML) Sinonasal Natural Killer (NK)/T Cell Lymphoma	Respond to Medication Gleevec (Imatinib)	blood (EDTA) bond marrow (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	10	DNA Analysis
185	MOLECULAR GENETICS	KIT DNA Analysis - exon 9 and 11 Gastrointestinal Tumors (GIST)	Respond to Medication Gleevec (Imatinib)	Fresh tumor tissue Paraffin Block		10	DNA Analysis
186	MOLECULAR GENETICS	KIT DNA Analysis - exon 9 and 17 Sinonasal natural killer (NK)/T-cell lymphoma	Respond to Medication Gleevec (Imatinib)	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
187	MOLECULAR GENETICS	KIT DNA Analysis - exon 9, 11, 13 and 17 Gastrointestinal Tumors (GIST)	Respond to Medication Gleevec (Imatinib)	Fresh tumor tissue Paraffin Block		15	DNA Analysis
188	MOLECULAR GENETICS	Chimerism analysis - with PCR analysis (receiver-donor) Post Bond Marrow Transplantation	Post-op Transplantation Success	blood (EDTA)		10	DNA Analysis
189	MOLECULAR GENETICS	KRAS DNA Analysis - whole gene (exon 1-6) Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	21	DNA Analysis
190	MOLECULAR GENETICS	KRAS mutation analysis - codon 12&13 Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	10	DNA Analysis
191	MOLECULAR GENETICS	KRAS mutation analysis - Kodon 12&13, 59, 61, 117, 146 Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	15	DNA Analysis
192	MOLECULAR GENETICS	KRAS and NRAS mutation analysis - Codon 12&13, 59, 61, 117, 146 Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	15	DNA Analysis
193	MOLECULAR GENETICS	Microsatellite Instability (MSI) Hereditary Non-polyposis Colorectal Cancer (HNPCC)	before MMR gene analysis	Fresh tumor tissue Paraffin Block	2-3 ml	15	DNA Analysis
194	MOLECULAR GENETICS	MPL DNA Analysis – exon 10 ( W515L/W515K andS505N dahil) Essential Thrombocythemia (ET) Myeloid Metaplasia going with Myelofibrosis	Different types of cancer	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
195	MOLECULAR GENETICS	NPM1 DNA Analysis – exon 12 Acute Myeloid Leukemia (AML)	Prognosis determination	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	DNA Analysis
196	MOLECULAR GENETICS	NRAS mutation analysis - kodon 12&13 Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	10	DNA Analysis
197	MOLECULAR GENETICS	NRAS mutation analysis Codon 12&13, 59, 61, 117, 146 Colorectal Cancers Non-Small Cell Lung Cancer (NSCLC) Gastric Cancer Familial Breast Cancer Acute Myelogenic Leukemia (AML) Pancreatic Carsinoma Transitional Cell Bladder Cancer	Respond to Medication Erbitux (Cetuximab) Vectibix (Panitumumab) Tarceva (Erlotinib) Iressa (Gefitinib) Avastin (Bevacizumab)	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	15	DNA Analysis
198	MOLECULAR GENETICS	P16 DNA Analysis - whole gene (exon 1-3) Cutaneous Malign Melanoma 2 Melanoma-Astrositoma Syndrome Pancreas Cancer	Diagnosis	Fresh tumor tissue Paraffin Block		15	DNA Analysis
199	MOLECULAR GENETICS	P53 DNA Analysis - exon 4, 5, 6, 7, 8 and 9 Li Fraumeni Syndrome Type I Breast Cancer Osteosarcoma Brain tumor Leukemias Pediatric Adrenocortical Carsinoma Melanoma-Astrocytomas Syndrome	Diagnosis	blood (EDTA) Fresh tumor tissue Paraffin Block	2-3 ml	15	DNA Analysis
200	MOLECULAR GENETICS	PDGFRA DNA Analysis - exon 12, 18 and 19 Gastrointestinal Tumors (GIST)	Respond to Medication Gleevec (Imatinib)	Fresh tumor tissue Paraffin Block		15	DNA Analysis
201	MOLECULAR GENETICS	PDGFRB DNA Analysis - exon 18 and 19	Diagnosis	Fresh tumor tissue Paraffin Block		10	DNA Analysis
202	MOLECULAR GENETICS	PIK3CA DNA Analysis - exon 9 and 20 Breast Cancer Ovarian Cancer Colorectal Cancers Endometrium cancer Lung Cancer Gastric Cancer Brain Cancer	Diagnosis	Fresh tumor tissue Paraffin Block		10	DNA Analysis
203	MOLECULAR GENETICS	PTEN DNA Analysis - whole gene (exon 1-9) Glioma Breast Cancer Colon cancer Endometrium cancer Prostate Cancer	Respond to Medication EGFR inhibitor (TKIs) mTOR inhibitor	Fresh tumor tissue Paraffin Block		21	DNA Analysis
204	MOLECULAR GENETICS	Real time pcr analysis - t(9;22) (BCR/ABL) Acute Lymphocytic Leukemia (ALL) Acute Myeloid Leukemia (AML) Chronic Myeloid Leukemia (CML)	Diagnosis	blood (EDTA) bond marrow (EDTA)	2-3 ml	10	Real-time PCR
205	MOLECULAR GENETICS	Ret DNA Analysis - exon 10, 11, 13, 14, 15 and 16 Medullar Thyroid Cancer Multiple Endocrine Neoplasia Type 2A (MEN2A) Multiple Endocrine Neoplasia Type 2B (MEN2B)	Diagnosis	blood (EDTA)	2-3 ml	15	DNA Analysis
206	MOLECULAR GENETICS - ANTI-CANCER DRUGS	5-Fluorouracil toxidity - DPD mutation analysis DPD*2A	Medicine Toxidity • 5-Fluorouracil sensitivity	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
207	MOLECULAR GENETICS - ANTI-CANCER DRUGS	Irinotekan toxidity - UGT1A1 mutation analysis UGT1A1*28	Medicine Toxidity • Irinotekan sensitivity	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
208	MOLECULAR GENETICS - ANTI-CANCER DRUGS	Thiopurine toxidity - TMPT mutation analysis TPMT2, 3A, 3B and3C	Medicine Toxidity • Azathioprine • 6-mercaptopurine • 6-thioguanine	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
209	MOLECULAR GENETICS - ANTI-CANCER DRUGS	Medicine Sensitivity - GSTM1 mutation analysis 3 Polymorphism	Medicine Toxidity •	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
210	MOLECULAR MICROBIOLOGY	HPV scanning + typing	HPV Suspicion • Cervical Cancer • Presence of Condyloma	ThinPrep/Paraffin tissue		10	Chip array
211	MOLECULAR MICROBIOLOGY	HCV RNA (PCR)				10	Real-time PCR
212	MOLECULAR MICROBIOLOGY	HBV DNA (PCR)				10	Real-time PCR
213	MOLECULAR MICROBIOLOGY	MICROBACTERIA (PCR)				10	Real-time PCR
214	MOLECULAR MICROBIOLOGY	HCV GENOTYPING				14	Real-time PCR
215	MOLECULAR MICROBIOLOGY	CMV DNA				10	Real-time PCR
216	MOLECULAR MICROBIOLOGY	TUBERCULOSIS MOLECULAR Diagnosis				10	Real-time PCR
217	MOLECULAR MICROBIOLOGY	HBV GENOTYPE DETERMINATION				14	Real-time PCR
218	MOLECULAR MICROBIOLOGY	PARVOVIRUS B19 DNA( PCR)				10	Real-time PCR
219	MOLECULAR MICROBIOLOGY	HDV RNA(PCR)				10	Real-time PCR
220	MOLECULAR MICROBIOLOGY	EBV PCR				10	Real-time PCR
221	MOLECULAR MICROBIOLOGY	HIV1 RNA				10	Real-time PCR
222	MOLECULAR MICROBIOLOGY	HSV TYPE1-2 DNA PCR				10	Real-time PCR
223	PHARMACOGENETICS	Medicine sensitivity panel - Large panel CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	15	Sequence Analysis
224	PHARMACOGENETICS	Medicine sensitivity panel - Standard panel CYP2D6, CYP2C9 andCYP2C19	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	15	Sequence Analysis
225	PHARMACOGENETICS	Medicine sensitivity panel (Neuropsychiatry) CYP2D6/CYP2C9/CYP2C19/CYP1A2/CYP3A4	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	15	Sequence Analysis
226	PHARMACOGENETICS	Coumadin Dose Panel - 3 Polymorphism CYP2C9 - 2, 3 andVKORC1 (-1639G>A)	Respond to Medication • Coumadin Dose adjustment	Peripheric blood (EDTA)	2-3 ml	15	Sequence Analysis
227	PHARMACOGENETICS	Plavix Dose Panel - 2 Polymorphism CYP2C19 - 2 and3	Respond to Medication • Clopidogrel resistence	Peripheric blood (EDTA)	2-3 ml	15	Sequence Analysis
228	PHARMACOGENETICS - ANTI-CANCER DRUGS	5-Fluorouracil toxidity - DPD mutation analysis DPD*2A	Medicine Toxidity • 5-Fluorouracil sensitivity	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
229	PHARMACOGENETICS - ANTI-CANCER DRUGS	Irinotekan toxidity - UGT1A1 mutation analysis UGT1A1*28	Medicine Toxidity • Irinotekan sensitivity	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
230	PHARMACOGENETICS - ANTI-CANCER DRUGS	Thiopurine toxidity - TMPT mutation analysis TPMT2, 3A, 3B and3C	Medicine Toxidity • Azathioprine • 6-mercaptopurine • 6-thioguanine	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
231	PHARMACOGENETICS - ANTI-CANCER DRUGS	GSTM1 mutation analysis 3 Polymorphism	Medicine Toxidity	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
232	PHARMACOGENETICS - OTHER MEDICINE	VKORC1 mutation analysis - 1 Polymorphism -1639C>A	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
233	PHARMACOGENETICS - OTHER MEDICINE	CYP2C9 mutation analysis - 2 Polymorphism CYP2C92 and3	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
234	PHARMACOGENETICS - OTHER MEDICINE	CYP2C19 mutation analysis - 2 Polymorphism CYP2C92 and3	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
235	PHARMACOGENETICS - OTHER MEDICINE	CYP2C19 mutation analysis - 5 Polymorphism CYP2C9 1,2, 3, 4 and*17	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
236	PHARMACOGENETICS - OTHER MEDICINE	CYP2D6 mutation analysis - 16 Polymorphism CYP2D6 1, 2,3,4,6,7,8,9,10,11,12,14,17,29,39, 41	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
237	PHARMACOGENETICS - OTHER MEDICINE	CYP1A2 mutation analysis - 2 Polymorphism CYP1A21C and1F	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
238	PHARMACOGENETICS - OTHER MEDICINE	CYP3A4 mutation analysis - 1 Polymorphism CYP3A4*2	Respond to Medication • Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
239	PHARMACOGENETICS - OTHER MEDICINE	SSRI respond- 5HTT (SCL6A4) mutation analysis Short allel	Respond to Medication • SSRI Dose adjustment	Peripheric blood (EDTA)	2-3 ml	10	Sequence Analysis
240	PREIMPLANTATION GENETIC DIAGNOSIS (PGD)	Thalassemia, Cystic Fibrosis, SMA, FMF and HLA Typing *No need for set-up, 15 days period is necessary for family marker study	Single Gene Disease	Blastomer		24-36 hours	DNA Analysis
241		Other single gene diseases *Needs set-up, average set-up period is 8 weeks	Single Gene Disease • Hemophilia A and B • Phenylketonuria • Fragile X • Rh Incompatibility • Others	Blastomer		24-36 hours	DNA Analysis
242
243	PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
244		HLA + Single Gene Disease	Single Gene Disease • Thalassemia • Sickle Cell Anemia • Immune System Diseases etc	Blastomer		24-36 hours	DNA Analysis
245	PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
246
247	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 5 chromosome (1-6 embryos) 13, 16, 18, 21, 22 veya 13, 18, 21, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1	FISH analysis
248	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 5 chromosome (7-12 embryos) 13, 16, 18, 21, 22 veya 13, 18, 21, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1	FISH analysis
249	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 7 chromosome (1-6 embryos) 13, 16, 18, 21, 22, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1-2	FISH analysis
250	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 7 chromosome (7-12 embryos) 13, 16, 18, 21, 22, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1-2	FISH analysis
251	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 9 chromosome (1-6 embryos) 13, 15, 16, 17, 18, 21, 22, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1-2	FISH analysis
252	CHROMOSOMAL DISEASES (FISH analysis)	Aneuploidy Examination in embryos with FISH – 9 chromosome (7-12 embryos) 13, 15, 16, 17, 18, 21, 22, X, Y	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		1-2	FISH analysis
253	CHROMOSOMAL DISEASES (FISH analysis)	FISH examination in couples carrying structural chromosome disorders	Structural chromosome Abnormalities • Reciprocal translocation • Robertsonian translocation • Insertional translocation • Insertional Deletion • Insertional Duplication • inversion	Blastomer		1	FISH analysis
254	CHROMOSOMAL DISEASES (FISH analysis)	FISH examination in diseases inherited with chromosome X	X-Linked Diseases • DMD/BMD • Hemophilia A • Hemophilia B vb	Blastomer		1	FISH analysis
255	MICROARRAY (aCGH) and NEXT GENERATION SEQUENCING (NGS)	Aneuploidy scanning in embryos with aCGH – 24 chromosome Numeric and Structural chromosome disorders	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		10-15 days	aCGH analysis (Agilent)
256	MICROARRAY (aCGH) and NEXT GENERATION SEQUENCING (NGS)	Aneuploidy scanning in embryos with aCGH – 24 chromosome Numeric and Structural chromosome disorders (fresh embriyo - 6 samples min.)	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		24-48 hours	aCGH analysis (Agilent)
257	MICROARRAY (aCGH) and NEXT GENERATION SEQUENCING (NGS)	Aneuploidy scanning in embryos with aCGH – 24 chromosome translocation, inversion, marker chromosome etc	Structural chromosome Abnormalities • Reciprocal translocation • Robertsonian translocation • Insertional translocation • Insertional Deletion • Insertional Duplication • inversion • Marker chromosome	Blastomer		10-15 days	aCGH analysis (Agilent)
258	MICROARRAY (aCGH) and NEXT GENERATION SEQUENCING (NGS)	Aneuploidy Scanning with NGS in embryos – 24 chromosome Numeric and Structural chromosome disorders	Numeric chromosome Abnormalities • Klinefelter, Mosaic Turner etc • Advance Maternal age • Recurrent pregnancy loss • Recurrent IVF Failure • Severe Gamet Morphology	Blastomer		10-15 days	NGS (Ion Torrent)
259	MICROARRAY (aCGH) and NEXT GENERATION SEQUENCING (NGS)	Aneuploidy Scanning with NGS in embryos – 24 chromosome translocation, inversion, marker chromosome etc	Structural chromosome Abnormalities • Reciprocal translocation • Robertsonian translocation • Insertional translocation • Insertional Deletion • Insertional Duplication • inversion • Marker chromosome	Blastomer		10-15 days	NGS (Ion Torrent)

* To perform PGD in single gene diseases, disease need to be clinically diagnosed in family and mutation is needed to be determined by genetic testing.

* If mutation is not diagnosed, additional time is necessary for determination of mutation by examining the ‘disease causing gene’ (in a local or foreign center)

* If mutation is diagnosed, set-up for mutations for other disease groups in our lists is required before IVF and PGD.

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