Test List

NESİLLER GENETİK TEST LIST

TEST IDTEST CATEGORYTEST NAMEINDICATIONSSAMPLE TYPEAMOUNT
(min)
RESULT RETURN (days)ANALYSIS METHOD
1CYTOGENETICSChromosomal Analysis - BloodSuspicion of Chromosomal Disease
• Multiple Congenital Abnormality
• Mental retardation
• Recurrent pregnancy loss
• Infertility
Peripheric blood (with heparin)2-3 ml15Cell Culture
2CYTOGENETICSChromosomal Analysis - ASSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Amniotic fluid15-20ml21Cell Culture
3CYTOGENETICSChromosomal Analysis - AS (twins)Suspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Amniotic fluid15-20ml21Cell Culture
4CYTOGENETICSChromosomal Analysis - CVSSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Chorionic villus30-50μg21Cell Culture
5CYTOGENETICSChromosomal Analysis - CordSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Cord blood (with heparin)2-3ml7Cell Culture
6CYTOGENETICSChromosomal Analysis - AbortusSuspicion of Chromosomal Disease
• Multiple Congenital Abnormality
• Recurrent pregnancy loss
Abortus material30-50μg21Cell Culture
7CYTOGENETICSChromosomal Analysis - Skin tissueSuspicion of Chromosomal Disease
• Multiple Congenital Abnormality
• Mental retardation
• Recurrent pregnancy loss
• Infertility
Skin tissue30-50μg21Cell Culture
8CYTOGENETICSChromosomal Analysis + rapid FISH - ASSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Amniotic fluid15-20ml2 + 21Cell Culture
9CYTOGENETICSChromosomal Analysis + rapid FISH - CVSSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
• Abnormal triple test
Chorionic villus30-50μg2 + 21Cell Culture
10MOLECULAR GENETICS - MOLECULAR KARYOTYPINGMolecular 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
15aCGH
11MOLECULAR GENETICS - MOLECULAR KARYOTYPING5α-Redüktaz insufficiency TYPE2 - SRD5A2 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
12MOLECULAR GENETICS - MOLECULAR KARYOTYPINGAdenosine Deaminase Deficiency - ADA (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
13MOLECULAR GENETICS - MOLECULAR KARYOTYPINGAchondroplasia - FGFR3 (exon 10)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
14MOLECULAR GENETICS - MOLECULAR KARYOTYPINGAchondroplasia - FGFR3 (exon 9,10,13,15)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
15MOLECULAR GENETICS - MOLECULAR KARYOTYPINGAlfa Thalassemia - HBA1&HBA2 (del.&dupl.)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
16MOLECULAR GENETICS - MOLECULAR KARYOTYPINGAmyotropic Lateral Sclerosis (ALS) – SOD1 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
17MOLECULAR GENETICS - MOLECULAR KARYOTYPINGBeta Thalassemia - HBB (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
18MOLECULAR GENETICS - MOLECULAR KARYOTYPINGBlackfan-Diamond Anemia - RPS19 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
19MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCADASIL - NOTCH3 (exon 3,4)Single Gene DiseaseBlood with EDTA2-3ml15Sequence Analysis
20MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCADASIL - NOTCH3 (exon 3,4,11,18,19)Single Gene DiseaseBlood with EDTA2-3ml30Sequence Analysis
21MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCanavan - ASPA DNA Analysis (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
22MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCharcot-Marie-Tooth - MPZ (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
23MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCharcot-Marie-Tooth (CMT1A) - PMP22 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
24MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCharcot-Marie-Tooth (CMT1A) - PMP22 dupl.Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
25MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCold-Induced Sweating Syndrome TYPE1 - CRLF1 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
26MOLECULAR GENETICS - MOLECULAR KARYOTYPINGDistonia (DYT1) – TOR1A1 (GAG Deletion)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
27MOLECULAR GENETICS - MOLECULAR KARYOTYPINGDMD/BMD - Dystrophin (79 exon del.&dupl.)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
28MOLECULAR GENETICS - MOLECULAR KARYOTYPINGExome SequencingSingle Gene DiseaseBlood with EDTA/AS/CVS2-3ml60NGS
29MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFabry Disease- GLA (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
30MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFactor XII (HAE) mutation analysisSingle Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
31MOLECULAR GENETICS - MOLECULAR KARYOTYPINGPhenylketonuria Disease - PKU (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
32MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFMF - MEFV (12 mutation)Single Gene DiseaseBlood with EDTA2-3ml10Sequence Analysis
33MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFMF - MEFV (50 mutation)Single Gene DiseaseBlood with EDTA2-3ml15Sequence Analysis
34MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFMF - MEFV (122 mutation)Single Gene DiseaseBlood with EDTA2-3ml12Sequence Analysis
35MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFMF - MEFV (whole gene)Single Gene DiseaseBlood with EDTA2-3ml21Sequence Analysis
36MOLECULAR GENETICS - MOLECULAR KARYOTYPINGFragile X - FMR1 (CGG recurrence)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
37MOLECULAR GENETICS - MOLECULAR KARYOTYPINGG6PD Insufficiency - G6PD (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
38MOLECULAR GENETICS - MOLECULAR KARYOTYPINGGalactokinase - GALK1 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
39MOLECULAR GENETICS - MOLECULAR KARYOTYPINGGalactosemia DNA Analysis - GALT (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
40MOLECULAR GENETICS - MOLECULAR KARYOTYPINGGriscelli Syndrome TYPE2 – RAB27A (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
41MOLECULAR GENETICS - MOLECULAR KARYOTYPINGGSD Type1A (Von Gierke) - G6PC (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
42MOLECULAR GENETICS - MOLECULAR KARYOTYPINGGSD Type1B/1C - SLC37A4 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
43MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHemophilia B Disease - F9 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
44MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHemochromatosis - H63D and C282YSingle Gene DiseaseBlood with EDTA2-3ml10Sequence Analysis
45MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHypochondroplasia - FGFR3 (exon 10)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
46MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHypochondroplasia - FGFR3 (exon 9,10,13,15)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
47MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHypoparathyroidism-Deafness-renal displasia - GATA3 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
48MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHunter Syndrome - IDUA (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
49MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHurler Syndrome - IDS (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
50MOLECULAR GENETICS - MOLECULAR KARYOTYPINGHDR Syndrome – GATA3 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
51MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCardiofaciocutaneous - BRAF (exon 6, 11-16)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
52MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCardiofaciocutaneous - MEK1 (exon 2,3)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
53MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCardiofaciocutaneous - MEK2 (exon 1, 2 and3)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
54MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (19 mutation)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
55MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (36 mutation)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
56MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (550 mutation)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml15Sequence Analysis
57MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (del&dupl.)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
58MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (deltaF508)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml7Sequence Analysis
59MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCystic Fibrosis - CFTR (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30NGS
60MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCongenital Myastenik Syndrome - CHRNE (exon 11&12)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
61MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCongenital deafness - Conneksin 26 (exon 2)Single Gene DiseaseBlood with EDTA2-3ml15Sequence Analysis
62MOLECULAR GENETICS - MOLECULAR KARYOTYPINGCongenital deafness - GJB1 (whole gene)Single Gene DiseaseBlood with EDTA2-3ml15Sequence Analysis
63MOLECULAR GENETICS - MOLECULAR KARYOTYPINGLHON mutation analysis - MTND genleri (A52T, R340H,M64V)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
64MOLECULAR GENETICS - MOLECULAR KARYOTYPINGLymphoproliferatiandSyndrome - SH2D1A (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Sequence Analysis
65MOLECULAR GENETICS - MOLECULAR KARYOTYPINGMarfan Syndrome (FBN1)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30NGS
66MOLECULAR GENETICS - MOLECULAR KARYOTYPINGMetachromatic Leukodystrophy - ARSA (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
67MOLECULAR GENETICS - MOLECULAR KARYOTYPINGMukopolisakkaridozis TYPE II - IDS (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
68MOLECULAR GENETICS - MOLECULAR KARYOTYPINGMukopolisakkaridozis TYPE IVA - GALNS (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
69MOLECULAR GENETICS - MOLECULAR KARYOTYPINGNiemann-Pick Syndrome – SMPD (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
70MOLECULAR GENETICS - MOLECULAR KARYOTYPINGNeutropenia – ELA2 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
71MOLECULAR GENETICS - MOLECULAR KARYOTYPINGSickle Cell AnemiaSingle Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
72MOLECULAR GENETICS - MOLECULAR KARYOTYPINGOsteopetrosis Disease - CLCN7 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
73MOLECULAR GENETICS - MOLECULAR KARYOTYPINGOsteopetrosis Disease - OSTM1 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
74MOLECULAR GENETICS - MOLECULAR KARYOTYPINGOsteopetrosis Disease - TCIRG (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
75MOLECULAR GENETICS - MOLECULAR KARYOTYPINGPena Shokeir Syndrome – DOK7 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
76MOLECULAR GENETICS - MOLECULAR KARYOTYPINGPena Shokeir Syndrome - RAPSN (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
77MOLECULAR GENETICS - MOLECULAR KARYOTYPINGRett Syndrome - MECP2 (del.&dupl.)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
78MOLECULAR GENETICS - MOLECULAR KARYOTYPINGRett Syndrome - MECP2 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
79MOLECULAR GENETICS - MOLECULAR KARYOTYPINGShwachman-Diamond Syndrome – SBDS (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
80MOLECULAR GENETICS - MOLECULAR KARYOTYPINGSialidase (Neuroaminidase) - Neu1 (whole gene)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
81MOLECULAR GENETICS - MOLECULAR KARYOTYPINGSmith-Lemli-Opitz - DHCR7 (tum gen)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml45Sequence Analysis
82MOLECULAR GENETICS - MOLECULAR KARYOTYPINGSpinal Muscular Atrophy (SMA) - SMN1Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
83MOLECULAR GENETICS - MOLECULAR KARYOTYPINGSpinal Muscular Atrophy (SMA) carrier testing - SMN1Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml21Fragment Analysis
84MOLECULAR GENETICS - MOLECULAR KARYOTYPINGThanatophoric displasia - FGFR3 (exon 10, 15)Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml10Sequence Analysis
85MOLECULAR GENETICS - MOLECULAR KARYOTYPINGThoracic Aortic Aneurysm + Aortic Dissection TYPE 4 -
ACTA2 (whole gene)
Single Gene DiseaseBlood with EDTA/AS/CVS2-3ml30Sequence Analysis
86MOLECULAR GENETICS - DNA DISEASESACE mutation analysis - I/DCardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
87MOLECULAR GENETICS - DNA DISEASESAlfa-1-Antitripsin insufficiency (AAT)PredispositionBlood with EDTA2-3ml10Sequence Analysis
88MOLECULAR GENETICS - DNA DISEASESApoE - e2, e3 and e4 allelsCardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
89MOLECULAR GENETICS - DNA DISEASESBeta-fibrinogen mutation analysis - -455G>ACardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
90MOLECULAR GENETICS - DNA DISEASESCeliac Disease – HLA (DQ2 andDQ8)Gluten intoleranceBlood with EDTA2-3ml10Gel Electrophoresis
91MOLECULAR GENETICS - DNA DISEASESFactor II (protrombin) mutation analysisCardiovascular RiskBlood with EDTA2-3ml7Sequence Analysis
92MOLECULAR GENETICS - DNA DISEASESFactor V leiden mutation analysisCardiovascular RiskBlood with EDTA2-3ml7Sequence Analysis
93MOLECULAR GENETICS - DNA DISEASESFactor XIII mutation analysis - V34L)-Cardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
94MOLECULAR GENETICS - DNA DISEASESFSHB mutation analysis – -211G>TInfertilityBlood with EDTA2-3ml15Sequence Analysis
95MOLECULAR GENETICS - DNA DISEASESGenotyping (Before freezing)Blood with EDTA2-3ml15Fragment Analysis
96MOLECULAR GENETICS - DNA DISEASESHLAB27Autoimmune DiseasesBlood with EDTA2-3ml10Gel Electrophoresis
97MOLECULAR GENETICS - DNA DISEASESHPA1 DNA Analysis - a/bCardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
98MOLECULAR GENETICS - DNA DISEASESCardiovascular Risk Panel - 12 mutationCardiovascular RiskBlood with EDTA2-3ml15Sequence Analysis
99MOLECULAR GENETICS - DNA DISEASESMaternal contamination testContamination eliminationBlood with EDTA2-3ml15Fragment Analysis
100MOLECULAR GENETICS - DNA DISEASESMTHFR mutation analysis - A1298CCardiovascular RiskBlood with EDTA2-3ml7Sequence Analysis
101MOLECULAR GENETICS - DNA DISEASESMTHFR mutation analysis - C677TCardiovascular RiskBlood with EDTA2-3ml7Sequence Analysis
102MOLECULAR GENETICS - DNA DISEASESPAI-1 DNA Analysis - 4G/5GCardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
103MOLECULAR GENETICS - DNA DISEASESThrombophilia Panel (Factor II/Factor V/MTHFR) 3 MutationCardiovascular RiskBlood with EDTA2-3ml7Sequence Analysis
104MOLECULAR GENETICS - DNA DISEASESThrombophilia Panel (Factor II/Factor V/MTHFR) 4 MutationCardiovascular RiskBlood with EDTA2-3ml10Sequence Analysis
105MOLECULAR GENETICS - DNA DISEASESChromosome Y micro-deletion - 24 STRInfertilityBlood with EDTA2-3ml10Gel Electrophoresis
106MOLECULAR GENETICS - DNA DISEASESEpiProcolonColon Cancer ScanningBlood with EDTA10 ml15Real Time PCR
107MOLECULAR GENETICS - DNA DISEASES3GenTestSuspicion of Chromosomal Disease
• Pathological USG
• Maternal age
Maternal10 ml15NGS
108MOLECULAR CYTOGENETICSFISH - rapid FISH
13, 18, 21, X andY
Suspicion of Chromosomal Disease
Amniyon/Chorionic villus2-3 ml
3FISH analysis
109MOLECULAR CYTOGENETICSFISH - sperm FISH
13, 18, 21, X andY
Infertility
Concentrated sperm15FISH analysis
110MOLECULAR CYTOGENETICSFISH - DNA fragmentation
Tunnel Testi
Infertility
Concentrated sperm15FISH analysis
111MOLECULAR CYTOGENETICSMicrodeletion FISH - Alagille
JAG1 (20p12.2)
Alagille SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
112MOLECULAR CYTOGENETICSMicrodeletion FISH - Cri-du-Chat
5p15.2
Cri-du-Chat SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
113MOLECULAR CYTOGENETICSMicrodeletion FISH - DiGeorge/VCFS
Tuple1 (22q11.2)
DiGeorge/VCFS SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
114MOLECULAR CYTOGENETICSMicrodeletion FISH - Diaphragmatic Hernia
IGF1R (15q26)
Congenital Diaphragmatic HerniaBlood with heparin/AS/CVS2-3 ml
7FISH analysis
115MOLECULAR CYTOGENETICSMicrodeletion FISH - Kallmann
KAL1 (Xp22.3)
Kallmann SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
116MOLECULAR CYTOGENETICSMicrodeletion FISH - Neurofibromatosis
NF1 (17q11.2)
Neurofibromatosis Type 1Blood with heparin/AS/CVS2-3 ml
7FISH analysis
117MOLECULAR CYTOGENETICSMicrodeletion FISH - Prader-Willi/Angelman
SNRPN (15q11.2)
Prader-Willi/Angelman SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
118MOLECULAR CYTOGENETICSMicrodeletion FISH - Smith-Magenis
RAI1 (17p11.2)
Smith-Magenis SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
119MOLECULAR CYTOGENETICSMicrodeletion FISH - Sotos
NSD1 (5q35)
Sotos SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
120MOLECULAR CYTOGENETICSMicrodeletion FISH - Williams-Beuren
ELN (7q11.23)
Williams-Beuren SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
121MOLECULAR CYTOGENETICSMicrodeletion FISH - Wolf-Hirschhorn
WHSC (4516.3)
Wolf-Hirschhorn SyndromeBlood with heparin/AS/CVS2-3 ml
7FISH analysis
122MOLECULAR CYTOGENETICSMicrodeletion FISH - X Inactivation
XIST (Xq13.2)
X InactivationBlood with heparin/AS/CVS2-3 ml
7FISH analysis
123ONCOLOGYChromosomal AnalysisHematological CancersBond marrow (heparin)
Blood (heparin)
2-3 ml
14Cell Culture
124ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)Chimerism analysis - with FISH analysis
Post Bond Marrow Transplantation
Post-op Transplantation SuccessBond marrow (heparin)
Blood (heparin)
2-3 ml
3FISH analysis
125ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - EML4/ALKRespond to MedicationFresh tumor tissue
Paraffin Block
7FISH analysis
126ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - 1p36&19q13
Gliomas
1p36 and 19q13 deletions
Respond to MedicationFresh tumor tissue
Paraffin Block
7FISH analysis
127ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - 11q22.3 (ATM)
Chronic Lymphocytic Leukemia (CLL)
Rearrangement and translocation
CLL diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml

7FISH analysis
128ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - 13q14 (RB1)
Retinoblastoma (RB)
Multiple Myeloma (MM)
Deletion in RB1 gene
RB and MM diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
Fresh tumor tissue
Paraffin Block
2-3 ml

7FISH analysis
129ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
130ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - 13q34 (LAMP1)
Chronic Lymphocytic Leukemia (CLL)
Rearrangement and translocation
CLL diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
131ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
132ONCOLOGY - 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
7FISH analysis
133ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
134ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis – 17q21 (RARA)
Acute Myeloid Leukemia (AML)
Rearrangement and translocation
AML diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
135ONCOLOGY - 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-upBond marrow (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
136ONCOLOGY - 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 remedyBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
137ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - 20q13 (AURKA)
Breast Cancer
Colon cancer
Brain tumor
Bladder cancer
Head-neck cancer
Endometrium cancer
PrognosisFresh tumor tissue
Paraffin Block
7FISH analysis
138ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
139ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
140ONCOLOGY - 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
PrognosisFresh tumor tissue
Paraffin Block
Bronchial Washing Sample
7FISH analysis
141ONCOLOGY - 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
PrognosisFresh tumor tissue
Paraffin Block
7FISH analysis
142ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - EGFR (7p12)
Lung Cancer
Colorectal Cancers
Breast Cancer
Glioma
7p12 amplification and chromosome 7 aneuploidy
Respond to MedicationFresh tumor tissue
Paraffin Block
7FISH analysis
143ONCOLOGY - 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
7FISH analysis
144ONCOLOGY - 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
7FISH analysis
145ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - Chromosome 12 (+12)
Chronic Lymphocytic Leukemia (CLL)
Chromosome 12 aneuploidy
CLL diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
146ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
147ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - N-MYC (2p24.3)
Neuroblastoma
2p24.3 amplification and chromosome 2 aneuploidy
PrognosisFresh tumor tissue
Paraffin Block
7FISH analysis
148ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
149ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
150ONCOLOGY - 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-upBond marrow (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
151ONCOLOGY - 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
PrognosisFresh tumor tissue
Paraffin Block
7FISH analysis
152ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
153ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(11;18) (API2/MALT1)
Non-Hodgkin Lymphoma (NHL)
11q21 and 18q21 translocation and fusion
NHL diagnosis and follow-upBond marrow (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
154ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(14;16) (IGH/MAF)
Multiple Myeloma (MM)
14q32 and 16q23 translocation and fusion
MM diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
155ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(14;18) (IGH/BCL2)
Non-Hodgkin Lymphoma (NHL)
14q32 and 18q21 translocation and fusion
NHL diagnosis and follow-upBond marrow (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
156ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(15;17) (PML/RARA)
Acute Myeloid Leukemia (AML)
15q22 and 17q21 translocation and fusion
AML diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
157ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
158ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
Lymphoid tissue
Fresh tumor tissue
Paraffin Block
2-3 ml
7FISH analysis
159ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(4;14) (IGH/FGFR3)
Multiple Myeloma (MM)
4p16 and 14q32 translocation
MM diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
160ONCOLOGY - 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-upBond marrow (heparin)
Lymphoid tissue
2-3 ml
7FISH analysis
161ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - t(8;21) (ETO/AML1)
Acute Myeloid Leukemia (AML)
21q22 ile 8q22 translocation and fusion
AML diagnosis and follow-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
162ONCOLOGY - 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-upBond marrow (heparin)
Blood (heparin)
2-3 ml
7FISH analysis
163ONCOLOGY - 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
7FISH analysis
164ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - ROS1 (6q22.1)Respond to MedicationFresh tumor tissue
Paraffin Block
7FISH analysis
165ONCOLOGY - MOLECULAR CYTOGENETICS (FISH)FISH analysis - PD-L1&2Respond to MedicationFresh tumor tissue
Paraffin Block
7FISH analysis
166MOLECULAR GENETICSABL1 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 ml10DNA Analysis
167MOLECULAR GENETICSABL1 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 ml15DNA Analysis
168MOLECULAR GENETICSBraf 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 ml10DNA Analysis
169MOLECULAR GENETICSBraf 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 ml10DNA Analysis veya Real Time PCR
170MOLECULAR GENETICSBraf 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
10DNA Analysis
171MOLECULAR GENETICSBRCA1 and BRCA2 DNA Analysis - whole gene
Breast Cancer
Ovarian Cancer
Prostate Cancer
Diagnosisblood (EDTA)2-3 ml45NGS
172MOLECULAR GENETICSBRCA Hereditary Cancer New Generation Sequencing (ATM, BARD1, BRCA1, BRCA2, CDH1, MEN1, MLH1, MSH2, MSH6, NBN)Diagnosisblood (EDTA)2-3 ml60NGS
173MOLECULAR GENETICSCHEK2 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 ml10DNA Analysis
174MOLECULAR GENETICSEGF – 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
10DNA Analysis
175MOLECULAR GENETICSEGFR 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
15DNA Analysis
176MOLECULAR GENETICSEGFR 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 ml10Real Time PCR
177MOLECULAR GENETICSFLT3 - ITD andD835
Acute Myeloid Leukemia (AML)
AML diagnosis and follow-upblood (EDTA)
bond marrow (EDTA)
2-3 ml10DNA Analysis
178MOLECULAR GENETICSHRAS DNA Analysis (exon 1 and 2)
Thyroid Cancer
Lung Cancer
Malign Melanoma
Different types of cancerFresh tumor tissue
Paraffin Block
10DNA Analysis
179MOLECULAR GENETICSIDH1 DNA Analysis (exon 4)
Acute Myeloid Leukemia (AML)
AML Prognosisblood (EDTA)
bond marrow (EDTA)
10DNA Analysis
180MOLECULAR GENETICSIDH2 DNA Analysis (exon 4)
Acute Myeloid Leukemia (AML)
AML Prognosisblood (EDTA)
bond marrow (EDTA)
10DNA Analysis
181MOLECULAR GENETICSJAK2 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 ml10DNA Analysis
182MOLECULAR GENETICSKIT 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 ml10DNA Analysis
183MOLECULAR GENETICSKIT DNA Analysis - exon 11
Gastrointestinal Tumors (GIST)
Malign Melanoma
Respond to Medication
Gleevec (Imatinib)
Fresh tumor tissue
Paraffin Block
10DNA Analysis
184MOLECULAR GENETICSKIT 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 ml10DNA Analysis
185MOLECULAR GENETICSKIT DNA Analysis - exon 9 and 11
Gastrointestinal Tumors (GIST)
Respond to Medication
Gleevec (Imatinib)
Fresh tumor tissue
Paraffin Block
10DNA Analysis
186MOLECULAR GENETICSKIT 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 ml10DNA Analysis
187MOLECULAR GENETICSKIT DNA Analysis - exon 9, 11, 13 and 17
Gastrointestinal Tumors (GIST)
Respond to Medication
Gleevec (Imatinib)
Fresh tumor tissue
Paraffin Block
15DNA Analysis
188MOLECULAR GENETICSChimerism analysis - with PCR analysis (receiver-donor)
Post Bond Marrow Transplantation
Post-op Transplantation Successblood (EDTA)10DNA Analysis
189MOLECULAR GENETICSKRAS 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 ml21DNA Analysis
190MOLECULAR GENETICSKRAS 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 ml10DNA Analysis
191MOLECULAR GENETICSKRAS 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 ml15DNA Analysis
192MOLECULAR GENETICSKRAS 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 ml15DNA Analysis
193MOLECULAR GENETICSMicrosatellite Instability (MSI)
Hereditary Non-polyposis Colorectal Cancer (HNPCC)
before MMR gene analysisFresh tumor tissue
Paraffin Block
2-3 ml15DNA Analysis
194MOLECULAR GENETICSMPL DNA Analysis – exon 10 ( W515L/W515K andS505N dahil)
Essential Thrombocythemia (ET)
Myeloid Metaplasia going with Myelofibrosis
Different types of cancerblood (EDTA)
bond marrow (EDTA)
2-3 ml10DNA Analysis
195MOLECULAR GENETICSNPM1 DNA Analysis – exon 12
Acute Myeloid Leukemia (AML)
Prognosis determinationblood (EDTA)
bond marrow (EDTA)
2-3 ml10DNA Analysis
196MOLECULAR GENETICSNRAS 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 ml10DNA Analysis
197MOLECULAR GENETICSNRAS 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 ml15DNA Analysis
198MOLECULAR GENETICSP16 DNA Analysis - whole gene (exon 1-3)
Cutaneous Malign Melanoma 2
Melanoma-Astrositoma Syndrome
Pancreas Cancer
DiagnosisFresh tumor tissue
Paraffin Block
15DNA Analysis
199MOLECULAR GENETICSP53 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
Diagnosisblood (EDTA)
Fresh tumor tissue
Paraffin Block
2-3 ml15DNA Analysis
200MOLECULAR GENETICSPDGFRA DNA Analysis - exon 12, 18 and 19
Gastrointestinal Tumors (GIST)
Respond to Medication
Gleevec (Imatinib)
Fresh tumor tissue
Paraffin Block
15DNA Analysis
201MOLECULAR GENETICSPDGFRB DNA Analysis - exon 18 and 19DiagnosisFresh tumor tissue
Paraffin Block
10DNA Analysis
202MOLECULAR GENETICSPIK3CA DNA Analysis - exon 9 and 20
Breast Cancer
Ovarian Cancer
Colorectal Cancers
Endometrium cancer
Lung Cancer
Gastric Cancer
Brain Cancer
DiagnosisFresh tumor tissue
Paraffin Block
10DNA Analysis
203MOLECULAR GENETICSPTEN 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
21DNA Analysis
204MOLECULAR GENETICSReal time pcr analysis - t(9;22) (BCR/ABL)
Acute Lymphocytic Leukemia (ALL)
Acute Myeloid Leukemia (AML)
Chronic Myeloid Leukemia (CML)
Diagnosisblood (EDTA)
bond marrow (EDTA)
2-3 ml10Real-time PCR
205MOLECULAR GENETICSRet 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)
Diagnosisblood (EDTA)2-3 ml15DNA Analysis
206MOLECULAR GENETICS - ANTI-CANCER DRUGS5-Fluorouracil toxidity - DPD mutation analysis
DPD*2A
Medicine Toxidity
• 5-Fluorouracil sensitivity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
207MOLECULAR GENETICS - ANTI-CANCER DRUGSIrinotekan toxidity - UGT1A1 mutation analysis
UGT1A1*28
Medicine Toxidity
• Irinotekan sensitivity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
208MOLECULAR GENETICS - ANTI-CANCER DRUGSThiopurine toxidity - TMPT mutation analysis
TPMT*2, *3A, *3B and*3C
Medicine Toxidity
• Azathioprine
• 6-mercaptopurine
• 6-thioguanine
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
209MOLECULAR GENETICS - ANTI-CANCER DRUGSMedicine Sensitivity - GSTM1 mutation analysis
3 Polymorphism
Medicine Toxidity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
210MOLECULAR MICROBIOLOGYHPV scanning + typingHPV Suspicion
• Cervical Cancer
• Presence of Condyloma
ThinPrep/Paraffin tissue10Chip array
211MOLECULAR MICROBIOLOGYHCV RNA (PCR)10Real-time PCR
212MOLECULAR MICROBIOLOGYHBV DNA (PCR)10Real-time PCR
213MOLECULAR MICROBIOLOGYMICROBACTERIA (PCR)10Real-time PCR
214MOLECULAR MICROBIOLOGYHCV GENOTYPING14Real-time PCR
215MOLECULAR MICROBIOLOGYCMV DNA10Real-time PCR
216MOLECULAR MICROBIOLOGYTUBERCULOSIS MOLECULAR Diagnosis10Real-time PCR
217MOLECULAR MICROBIOLOGYHBV GENOTYPE DETERMINATION14Real-time PCR
218MOLECULAR MICROBIOLOGYPARVOVIRUS B19 DNA( PCR)10Real-time PCR
219MOLECULAR MICROBIOLOGYHDV RNA(PCR)10Real-time PCR
220MOLECULAR MICROBIOLOGYEBV PCR10Real-time PCR
221MOLECULAR MICROBIOLOGYHIV1 RNA10Real-time PCR
222MOLECULAR MICROBIOLOGYHSV TYPE1-2 DNA PCR10Real-time PCR
223PHARMACOGENETICSMedicine sensitivity panel - Large panel
CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml15Sequence Analysis
224PHARMACOGENETICSMedicine sensitivity panel - Standard panel
CYP2D6, CYP2C9 andCYP2C19
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml15Sequence Analysis
225PHARMACOGENETICSMedicine sensitivity panel (Neuropsychiatry)
CYP2D6/CYP2C9/CYP2C19/CYP1A2/CYP3A4
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml15Sequence Analysis
226PHARMACOGENETICSCoumadin Dose Panel - 3 Polymorphism
CYP2C9 - *2, *3 andVKORC1 (-1639G>A)
Respond to Medication
• Coumadin Dose adjustment
Peripheric blood (EDTA)2-3 ml15Sequence Analysis
227PHARMACOGENETICSPlavix Dose Panel - 2 Polymorphism
CYP2C19 - *2 and*3
Respond to Medication
• Clopidogrel resistence
Peripheric blood (EDTA)2-3 ml15Sequence Analysis
228PHARMACOGENETICS - ANTI-CANCER DRUGS5-Fluorouracil toxidity - DPD mutation analysis
DPD*2A
Medicine Toxidity
• 5-Fluorouracil sensitivity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
229PHARMACOGENETICS - ANTI-CANCER DRUGSIrinotekan toxidity - UGT1A1 mutation analysis
UGT1A1*28
Medicine Toxidity
• Irinotekan sensitivity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
230PHARMACOGENETICS - ANTI-CANCER DRUGSThiopurine toxidity - TMPT mutation analysis
TPMT*2, *3A, *3B and*3C
Medicine Toxidity
• Azathioprine
• 6-mercaptopurine
• 6-thioguanine
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
231PHARMACOGENETICS - ANTI-CANCER DRUGSGSTM1 mutation analysis
3 Polymorphism
Medicine Toxidity
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
232PHARMACOGENETICS - OTHER MEDICINEVKORC1 mutation analysis - 1 Polymorphism
-1639C>A
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
233PHARMACOGENETICS - OTHER MEDICINECYP2C9 mutation analysis - 2 Polymorphism
CYP2C9*2 and*3
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
234PHARMACOGENETICS - OTHER MEDICINECYP2C19 mutation analysis - 2 Polymorphism
CYP2C9*2 and*3
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
235PHARMACOGENETICS - OTHER MEDICINECYP2C19 mutation analysis - 5 Polymorphism
CYP2C9 *1,*2, *3, *4 and*17
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
236PHARMACOGENETICS - OTHER MEDICINECYP2D6 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 ml10Sequence Analysis
237PHARMACOGENETICS - OTHER MEDICINECYP1A2 mutation analysis - 2 Polymorphism
CYP1A2*1C and*1F
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
238PHARMACOGENETICS - OTHER MEDICINECYP3A4 mutation analysis - 1 Polymorphism
CYP3A4*2
Respond to Medication
• Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
239PHARMACOGENETICS - OTHER MEDICINESSRI respond- 5HTT (SCL6A4) mutation analysis
Short allel
Respond to Medication
• SSRI Dose adjustment
Peripheric blood (EDTA)2-3 ml10Sequence Analysis
240PREIMPLANTATION 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 DiseaseBlastomer 24-36 hoursDNA Analysis
241Other 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 hoursDNA Analysis
242
243PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
244HLA + Single Gene DiseaseSingle Gene Disease
• Thalassemia
• Sickle Cell Anemia
• Immune System Diseases etc

Blastomer 24-36 hoursDNA Analysis
245PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
246
247CHROMOSOMAL 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
Blastomer1FISH analysis
248CHROMOSOMAL 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
Blastomer1FISH analysis
249CHROMOSOMAL 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
Blastomer1-2FISH analysis
250CHROMOSOMAL 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
Blastomer1-2FISH analysis
251CHROMOSOMAL 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
Blastomer1-2FISH analysis
252CHROMOSOMAL 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
Blastomer1-2FISH analysis
253CHROMOSOMAL 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


Blastomer1FISH analysis
254CHROMOSOMAL DISEASES (FISH analysis)FISH examination in diseases inherited with chromosome X



X-Linked Diseases
• DMD/BMD
• Hemophilia A
• Hemophilia B vb



Blastomer1FISH analysis
255MICROARRAY (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
Blastomer10-15 daysaCGH analysis (Agilent)
256MICROARRAY (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
Blastomer24-48 hoursaCGH analysis (Agilent)
257MICROARRAY (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

Blastomer10-15 daysaCGH analysis (Agilent)
258MICROARRAY (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
Blastomer10-15 daysNGS (Ion Torrent)
259MICROARRAY (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

Blastomer10-15 daysNGS (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.