Duzen Laboratories Group Genetic Diseases Evaluation Center
Duzen Laboratories Group Genetic Diseases Evaluation Center
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our Genetic Tests & Test Panels
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1
10q24 TLX1
11q22.3 Deletion
11q23 MLL Mutations
11-Beta-Hydroxylase Gene (CYP11B1) Mutations
13q14.3 Deletion
13q14.3 (D13S319) Deletion
13q34 Deletion
14q11.2 TCR rearrangement
14q32 Deletion
17p13.1 Deletion
19q Deletion
1p Deletion
1p/19q Deletion
1q21 CKS1B/(1q32-36) CDKN2C
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2
20q12 Deletion
20q13.2 (LSI ZNF217) Deletion
22q11 IGL
2p12 IGK
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5
5q31 Deletion
5q33-q34 (CSF1R) Deletion
5q35.1 TLX3
5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)
5 Alpha Reductase Deletion/Duplication Analysis
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6
6q23 (MYB) Deletion
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7
7q22 / 7q35 (MDS) Deletion
7q31 Deletion
7q34 TCRB
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9
9p21 (CDKN2A) Deletion
9q34 Deletion
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A
AARSKOG (FGD1 Gene)
ACE I/D Polymorphism
Achondroplasia Mutation Analysis (FGFR3 Gene)
ACTN3 Mutation Analysis
Adrenoleukodystrophy (ABCD1 Gene)
Age-Related Macular Degeneration Genetic Predisposition
ALK Gene Mutations
ALK (2p23) Mutations
ALL Panel
Alpha Thalassemia Deletion/Duplication Analysis
Alpha Thalassemia Mutation Screening
Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles)
ALPL Gene Deletion/Duplication Analysis
ALPORT Syndrome
Alzheimer’s Disease, APP Gene Exon 16 & 17 Genetic Analysis, Alzheimer Type 1
Alzheimer’s Disease, APP Gene Genetic Analysis, Alzheimer Type 1
Alzheimer’s Disease, PSEN1 Genetic Analysis, Alzheimer Type 3
Alzheimer’s Disease, PSEN2 Genetic Analysis, Alzheimer Type 4
AMHR Genetic Analysis
AMH Genetic Analysis
AML Panel
ANGELMAN Methylation Analysis
Angelman Syndrome
Angioedema, hereditary, types I and II
Antithrombin III
ApoE Genotyping
ARX Mutation Analysis
AR Deletion/Duplication Analysis
AR (Androgen Receptor ) Analysis
AR-V7 Genetic Test
ASXL1 Exon 12 Analysis
Autism Spectrum Gene Panel
AVPR2 Sequencing
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B
BCL2 (18q21) Rearrangement
BCL6 (3q27) Rearrangement
BECKWITH WIEDEMANN 11p15 Hypomethylation Analysis
Bernard Soulier Syndrome type A
Bernard Soulier Syndrome, type B
Bernard Soulier Syndrome, type C
Beta-Thalassemias deletion/duplication analysis
Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis
Biotinidase Deficiency (BTD Gene)
Bladder Cancer Genetic Screen (UROVYSION)
BMP4 Gene Sequence Analysis
BRAF Amplifications
BRAF Gene V600E Mutation
BRCA1 and BRCA2 Gene Mutations
BRCA1 Deletion/Duplication Analysis
BRCA2 Deletion/Duplication Analysis
Brugada Syndrome
B-Cell Clonality Test
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C
Cadasil Disease (Exon 3, 4, 5, 6)
CALR Exon 9 Mutations
Canavan Disease Genetic Analysis (ASPA Gene)
Carnitine Palmitoyltransferase II Deficiency
CCND1 (11Q13) Rearrangement
CDKL5 Gene Sequencing
CEBPA Gene Mutation
Celiac Genetic Panel
Chimerism (Transplantation from a different sex)
Chimerism (Transplantation from the same sex)
CHN1 Gene Sequence Analysis
Chromosome Analysis from Skin Biopsy
Chromosome Analysis from Solid Tissue Material
Chromosome Analysis in Amniotic Fluid
Chromosome Analysis in Amniotic Fluid with Rapid FISH Result
Chromosome Analysis in Amniotic Fluid with Rapid QF-PCR Result
Chromosome Analysis in Bone Marrow Aspiration Material
Chromosome Analysis in Chorionic villus sampling (CVS)
Chromosome Analysis in Fetal Blood
Chromosome Analysis in Peripheral Blood
Chromosome Analysis in Peripheral Blood (Leukemia)
Chromosome Analysis (in Abortion/Miscarriage Material)
CIAS1 Gene Mutations
Citrullinemia Type I Genetic Testing
CKIT Mutations
CLL Panel
CLN Type 1
CLN Type 2
CLN Type 3
CLN Type 6
Coffin-Lowry Syndrome (RSK2)
Congenital Adrenal Hyperplasia (CYP21A2 Gene)
Congenital Adrenal Hypoplasia Deletion Analysis
Congenital Adrenal Hypoplasia Mutation Analysis
Congenital Glycosylation defect Type 1A
Congenital Nephrotic Syndrome, Type 1 (NPHS1 Gene)
Congenital Neutropenia (ELANE Gene)
CONNEXIN26 Mutations
CSF3R mutasyonları
CYP21A2 Deletion/Duplication Analysis
CYP27A1 Gene Deletion/Duplication Analysis
CYP27A1 Sequencing
CYP2D6 Mutation Analysis
Cystic Fibrosis CFTR Delta F508 Mutation
Cystic Fibrosis (CFTR) Deletion Duplication Analysis
Cystic Fibrosis (CFTR) Whole Gene Sequence Analysis
Cystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis
Cystinosis CTNS Gene Testing
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D
DDIT3 Rearrangements
Determination of Maternal Contamination
DMD Carrier Test
DMD Point Mutations
DMD/BMD Deletion Analysis
DRAVET Syndrome SCN1A
DYT-1 Mutation Analysis
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E
Ectodermal Dysplasia, Hypohidrotic (EDAR Gene Sequence Analysis)
EGFR Amplifications
EGFR Gene Mutations
Epilepsy Gene Panel
EWSR1 Rearrangements
EWS-FLI1 t(11;22) (PNET) RT-PCR
E-Cadherin Mutations
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F
F13 V34L Polymorphism Analysis
Fabry Syndrome (GLA Gene Sequence Analysis)
Factor V Cambridge Mutation Analysis
Factor V Leiden Mutation
Familial Adenomatous Polyposis
Familial Hypercholesterolemia Genetic Panel
Familial Hypertrophic Cardiomyopathy Panel
Familial Mediterranean Fever Gene Sequence Analysis
Familial Mediterranean Fever Mutation Analysis
Fanconi-Bickel Syndrome (SLC2A2 Gene)
Fatty Acid Oxidation Disorders Gene Panel
FGF23 Mutations
FGFR1 Amplifications
FGFR1 Sequencing
FGFR2 sequencing
FGFR3 Sequence Analysis
FIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR)
FLT3 Mutations
Fluorouracil Toxicity
FOXG1 Syndrome
FOXL2 Mutation
FOXO1 Fusion Mutations
Fragile X Repeat Analysis
Fragile X Syndrome (Cytogenetics)
Fragile X Syndrome (PCR)
Friedreich Ataxia Mutation Analyis
Fucosidosis FUCA1 Gen Analizi
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G
Galactosemia Genetic Analysis (GALT Gene)
GALT Deletion/Duplication Analysis
GATA1 exon2 Analysis
GAUCHER GBA Gene Sequencing
GCH1 Sequencing
Genetic Arrhythmia Panel
Gilbert Syndrome – UGT1A1 Gene 5 – (TA) Repeat Number
GLUD1 Gene Sequencing
Glutaric Acidemia I
Glycogen Storage Diseases Gene Panel
Glycogen Storage Disease Ia G6PC Gene Testing
GM1-Gangliosidosis (GLB1 Gene)
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H
HBB Mutation Analysis
Hemochromatosis
Hemochromatosis (2 mutations)
HER2 Mutations
HER2/NEU/TopoIIa
Hereditary Cancer Panel (26 genes)
Hereditary Fructose Intolerance (ALDOB Gene)
Hereditary NonPolyposis Colorectal Cancer (HNPCC)
Hereditary Spastic Paraplegia
Hereditary Transthyretin-Related Amyloidosis
HLA-B51
HLA-B5701
HNPP
HOLT-ORAM TBX5 Sequencing
HOXA1 Gene Sequence Analysis
HRAS Mutations
HUNTER IDS Gene Sequencing
Huntington Disease Mutation Analysis
Hypochondroplasia Mutation Analysis
Hypokalemic Periodic Paralysis Genetic Analysis (CACNA1S 4 Mutations & SCN4A 5 Mutation)
Hypophosphatasia ALPL Gene Sequencing
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I
IDH1 exon 4 Analysis
IDH2 exon 4 Analysis
IGF1R Gene Sequencing
IGH/MALT1 Fussion
Imatinib Resistance Sequence Analysis
Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (FISH)
Inversion (16)(p13;q22) / Translocation (16;16)(p13;q22) (PCR)
Inversion (3)(q21;q26.2) / Translocation (3;3)(q21;q26.2) FISH
Irinotecan Toxicity (UGT1A1)
Isovaleric Acidemia Genetic Test (IVD Gene)
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J
JAK2 Exon 12 Mutations
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K
Kartagener Syndrome Primary Ciliary Dyskinesia [CILD1 (DNAI1) Gene DNA Sequence Analysis]
KCNE1 Sequencing
KCNH2 Sequencing
KCNJ11 Gene Sequencing
KCNQ1 Sequencing
KCNQ2 Sequencing
KENNEDY DISEASE Genetic Test
KIF2A Gene DNA Sequence Analysis
Kostmann Disease (HAX1 Gene)
KRAS Mutations
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L
Lafora Disease (EPM2A Gene Sequence Analysis)
Lafora Disease (NHLRC1 Gene Sequence Analysis)
LHON Gene Analysis
Limb-Girdle 2D (CAPN3 Gene Sequence Analysis)
Limb-Girdle 2D (SGCA Gene Sequence Analysis)
Limb-Girdle 2E (SGCB)
Limb-Girdle 2F (SGCD)
Limb-Girdle Deletion Analysis
LMNA Gene Sequence Analysis (Emery-Dreifuss/Limb-Girdle Muscular Dystrophy)
Lowe Syndrome (OCRL1 Gene)
Lysosomal Storage Diseases Gene Panel
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M
Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes)
MARFAN Syndrome (FBN1 Gene DNA Sequence Analysis)
MC4R Sequencing
MDR1 Mutation
MDS Panel
Melas Syndrome (A3243G, T3271C, A3252G)
Melas Syndrome (MTTL1 Gene Sequence Analysis)
MEN1 Sequencing
MERRF Syndrome (A8344G)
MERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis
Metachromatic Leukodystrophy (ARSA1 Gene)
Methylmalonic Aciduria Genetic Test (MUT Gene)
MET Amplifications
MFRP Gene Sequence Analysis
MGMT Gene Methylation Analysis
Microsatellite Instability
Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO)
Mitomycin C Test
MM Panel
MODY2 GCK Gene Sequencing
MODY3 HNF1A Gene Sequencing
MODY5 HNF1B Gene Sequencing
MODY Genetic Panel
MODY Type 1 (HNF4A Gene)
Molecular Karyotyping
Monosomy 5/ Deletion 5q
Monosomy / Trisomy 7
Monosomy / Trisomy 8
MPL Mutation Analysis
MTHFR A1298C Mutation Analysis
MTHFR C677T Mutation Analysis
Mucopolysaccharidosis Type VI (ARSB Gene)
MUNC13-4 (UNC13) Gene Sequence Analysis
MYCN (2p24) Amplifications
MYC (8Q24) Rearrangement
MYOC gene testing
Myotonic Dystrophy
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N
NF1 Deletion/Duplication Analysis
NF1 Genetic Test
NF2 Gene Sequencing
Niemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes)
NIJMEGEN SYNDROME
NonSmall Cell Lung Cancer Genetic Panel
Non-Hodgkin Lymphoma Panel
NOONAN Syndrome
Noronal Ceroid Lipofuscinosis (NCL) Genetic Panel
NORRIE Disease
NPM1 Mutation (MUTA, MUTB, MUTD)
NRAS Mutations
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O
Osteochondrodysplasia (DYM Gene)
OSTEOGENESIS IMPERFECTA (COL1A1 Gene)
Osteoporosis Susceptibility Panel
Oxidative Stress Levels in Semen (ROS Test)
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P
PAH Deletion/Duplication Analysis
Parkinson Juvenil, PARK2
Parkinson Type 7, DJ1
Parkinson Type 9, Kufor-Rakeb Syndrome
Parkinson’s Type 1, SNCA
Parkinson’s Type 6, PINK1
Parkinson’s Type 8, LRRK2
PAX6 Gene Sequence Analysis
PCA3
PDGFRA Gene Mutations
PDGFRB Gene Mutations
Pediatric ALL Panel
Pediatric AML Panel
Pediatric MDS Panel
Perforin Gene Sequence Analysis
Peroxisomal Disorders Gene Panel
PEUTZ-JEGHERS Syndrome (STK11)
PFIC1 Genetic Analysis
PFIC2 Genetic Analysis
PFIC3 Genetic Analysis
PIK3CA Gene Mutations
Plasminogen Activator Inhibitor 1 Polymorphism
Plavix Effectiveness (CYP2C19)
Podocin (NPHS2) DNA Sequence Analysis
POLE Mutations
Polycystic Kidney Disease (PKD) Type II (Adult)
Polycystic Kidney Disease (PKD) Type I (Adult)
POMPE Genetic Analysis
PON1 Polymorphism (163T>A, 575A>G)
PRADER-WILLI Methylation Analysis
Prader-Willi Syndrome (FISH)
Prion Disease Genetic Analysis
PROP1 Deletion/Duplication Analysis
PROP1 Genetic Analysis
Propionicacidemia Genetic Test (PCCA, PCCB Genes)
Prothrombin (Factor II) Mutation Analysis
PRRT2 Gene Sequencing
Pseudoxanthoma Elasticum Gene Test
PTEN Deletion
PTEN Deletion/Duplication Analysis
PTEN Point Mutations
Purine Nucleoside Phosphorylase Deficiency
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R
Rapid Detection of Trisomy (QF-PCR)
RARA (17q21) Rearrangements
RETT Syndrome MECP2 Deletion Analysis
RET Mutations
Rheumatoid Arthritis Susceptibility Panel
ROS1 Amplifications
ROS1 Fusion mutations
RREB1 (6q25) Amplifications
Rubinstein-Taybi Syndrome (CREBBP Gene Sequence Analysis)
Rubinstein-Taybi Syndrome (del 16p13.3) FISH
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S
SALL4 Gene Sequence Analysis
SCA Panel (Type 1,2,3,6,7)
SCE Test
SDHB Gene Sequencing
SELECTIN S128R Polymorphism Analysis
SFTPA2 Sequencing
SFTPC Sequencing
SGCG Gene Sequence Analysis
SHOX Deletion
Shwachman-Diamond SBDS Sequence Analysis
Silver-Russell 11p15 Hypomethylation
Silver-Russell mat UPD7
Single Chromosome Painting (FISH)
Single Chromosome Subtelomeric (FISH)
SMA Mutation Analysis
Smith-Lemli-Opitz Syndrome
SOD1 Sequencing
SOS1 Gene Sequencing
Sotos NSD1 Gene Sequencing
Sotos Syndrome (FISH)
SOX9 Mutations
Sperm Apoptosis Detection (ANNEXIN V)
Sperm DNA Damage
Sperm DNA Damage & Genetic Screening
Spinocerebellar Ataxia (SCA) Type 1
Spinocerebellar Ataxia (SCA) Type 10
Spinocerebellar Ataxia (SCA) Type 12
Spinocerebellar Ataxia (SCA) Type 17
Spinocerebellar Ataxia (SCA) Type 2
Spinocerebellar Ataxia (SCA) Type 3
Spinocerebellar Ataxia (SCA) Type 6
Spinocerebellar Ataxia (SCA) Type 7
Spinocerebellar Ataxia (SCA) Type 8
SS18 Rearrangements
STARGARDT Disease
STX11 (Syntaxin 11) Gene Sequence Analysis
SURF1 Sequencing
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T
Tay-Sachs Disease Genetic Test (HEXA Gene)
TERC Sequencing
TERT Sequencing
Thiopurine Pharmacogenetics Test (TPMT Gene)
Thrombophilia – Cardiovascular Disease Genetic Susceptibility Panel
TP53 Gene Sequence Analysis
Translocation (11;14)(q13;q32) (FISH)
Translocation (11;18)(q21;q21) (API2/MALT1) FISH
Translocation (11;19)(q23;p13.1) (MLL/ENL) FISH
Translocation (12;21)(p12;q22) (FISH)
Translocation (12;21)(p12;q22) (PCR)
Translocation (14;16)(q32;q23) (MAF/IGH) FISH
Translocation (14;18)(q32;q21) (FISH)
Translocation (14;20)(q32;q12)(IGH/MAFB) (FISH)
Translocation (15;17)(q22;q21) (FISH)
Translocation (15;17)(q22;q21) (PCR)
Translocation (1;19)(q23;p13) (TCF3/PBX1) FISH
Translocation (4;11) (q21;q23) (MLL/AFF1 ) (PCR)
Translocation (4;11)(q21;q23) (MLL/AFF1 ) FISH
Translocation (4;14)(p16;q32) (FISH)
Translocation (5;12) (q33;p13) (PCR)
Translocation (6;14)(p21;q32)(CCND3/IGH) (FISH)
Translocation (6;9)(p22;q34) (DEK/NUP214) FISH
Translocation (8;14)(q24; q32) (FISH)
Translocation (8;21)(q22; q22) (FISH)
Translocation (8;21)(q22; q22) (PCR)
Translocation (9;11)(p22;q23) (AF9/MLL) FISH
Translocation (9;22)(q34;q11.2) (FISH)
Translocation (9;22)(q34;q11.2) (PCR)
Trisomy 10
Trisomy 11
Trisomy 12
Trisomy 17
Trisomy 4
Trisomy 6
TUBB3 Gene Sequence Analysis
TWIST1 Deletion/Duplication Analysis
TWIST1 Mutation Analysis
T-Cell Clonality Test
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W
Waardenburg Syndrome
Warfarin Drug Resistance
Whole Chromosome Painting (FISH) (46 chromosomes)
Whole Exome Sequencing (WES)
Wilms Tumor (WT1 Gene) Sequence Analysis
WILSON ATP7B Sequencing
Wilson Disease Genetic Analysis
WISKOTT-ALDRICH Syndrome (WAS Gene)
Wolman LIPA Gene Sequencing
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X
XIST Gene Deletion
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Y
Y Chromosome Microdeletion Analysis
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#
(5)(q32) PDGFRB
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