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 TPMT*2, *3A, *3B and*3C | 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 and*3 | 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 TPMT*2, *3A, *3B and*3C | 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 CYP2C9*2 and*3 | Respond to Medication • Dose adjustment | Peripheric blood (EDTA) | 2-3 ml | 10 | Sequence Analysis |
234 | PHARMACOGENETICS - OTHER MEDICINE | CYP2C19 mutation analysis - 2 Polymorphism CYP2C9*2 and*3 | 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 CYP1A2*1C and*1F | 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.