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our Genetic Tests & Test Panelsin alphabetical order
1
5
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
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
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
D
E
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
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)
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
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)
K
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
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
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
O
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
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
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
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
W
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