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Genetic Tests for Cancer
BRCA 1 and BRCA 2 (common 3 founder mutations)
BRCA 1 mutation (24 exons by sequencing)
BRCA 1 deletion/duplication
BRCA 2 mutation (27 exons by sequencing)
BRCA 2 deletion/duplication
BRCA 1 and BRCA 2 mutation (by sequencing)
Breast Cancer Her 2 gene amplification- F.I.S.H
MLH1 /MSH 2 deletion/duplication
MLH1/MSH2 Micro satellite Instability (MSI)
Bcr/Abl dual probe (CML)- F.I.S.H
Small Cell Cancer of Lung- EGFR mutation- F.I.S.H
Translocation 8/ 21 probe (Acute Myelogenous Leukemia)- F.I.S.H
Translocation 8/ 14 (Burkitts Lymphoma, others)- F.I.S.H
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Cytogenetic Tests List
Karyotyping
Abortus Material (Long term culture)
Amniotic Fluid (Cell Culture)
Ataxia Telengiectasia - Bleomycin assay
Blood Chromosomes
Bone Marrow chromosomes
Chorionic Villi samples (Long term culture)
Cord Blood Prenatal- Chromosomes
Falconi’s Anemia (Mitomycin Assay)
Fibroblast culture for other test
Fragile X Syndrome - Thymidine block
Prader Willi syndrome- microdeletion Chm 15
Recurrent Abortions, Husband and Wife
F.I.S.H. Cytogenetic studies
Amniotic Fluid (5 probes 18, 21, 13, X, Y)
Amniotic Fluid culture + F.I.S.H (5 probes)
Chromosome 21/13 only or (X,Y,18)
Chromosome 21
Chromosome 16
Chromosome X & Y
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Williams Syndrome
Retinoblastoma
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Miller Decker/Lis gene
Smith-Magenis
Di George Syndrome-Tuple 1 probe
Di George Syndrome-N25 probe
Leukemias
Bcr/Abl dual probe (CML)
Translocation 8/ 21 probe (AML)
Transloc. 15 / 17 probe (Ac. P.L)
Breast cancer Her 2 gene amplification
Small cell cancer of Lung - EGFR mutation
Translocation 8/14 (Burkitts, others)
DNA Tests
Achondroplasia
Albinism-OCA 1 Tyrosinase gene sequencing/ Albinism-OCA 2 gene-Common deletion
Alkaptonuria-linkage studies/ Prenatal Diagnosis-linkage
Alpha 1 Anti Typsin (Z, S & M Mutation)
Alpha thalassemia-deletions
Aneuploidy screening (21, 18, 13, X, Y, chm)
Angelman Syndrome (methylation test)
Apert Syndrome
Apo E Genotyping
Ataxia Telangiectasia-carrier screening by linkage
Ataxia Telangiectasia-PND by linkage
Canavan Disease- Asparto asylase (ASPA) gene sequencing
Charcot Marie Tooth disease 1/ HNPP (Del/Dupl. PMP gene)
CMV-Cytomegalovirus-PCR
Congenital Adrenal Hyperplasia-Common deletion
Congenital Adrenal Hyperplasia- 5 mutations
Congenital Adrenal Hyperplasia-deletions by dosage test
Congenital Adrenal Hyperplasia-Prenatal diagnosis-linkage
Congenital Adrenal Hyperplasia-Cyp 21 gene sequencing
Craniosynostosis ( non specific) C749-FGFR 3
Crigler Najjar Syn.- UGT1A1 gene sequencing
Cruozon disease: FGFR 2 mutation (Ser 354 Cys)
Cystic Fibrosis- Diagnosis (Delta 508 mutation)
Cystic Fibrosis- 254 Mutations + Poly T
Cystic Megalencephaly- MLC1 gene sequencing
Cystic Megalencephaly- Prenatal Diagnosis CVS
Deafness Connexin 26 gene-sequencing
DMD deletion testing - 18 exons
DMD 79 exons- deletion/duplication test
DMD-Dosage studies in females
DMD - Prenatal diagnosis + maternal cell contamination
Dystonia (DYT 1 gene- common deletion)
Ectodermal dysplasia X- linked –PND by linkage +MCC
Ectodermal dysplasia X- linked, gene sequencing
Epidermolysis bullosa dystrophia (PND- by linkage)
Factor V Leiden
Familial hypercholesterolemia (linkage, Prenatal)
FGFR 3 gene sequencing (Ach, Hypochond, Thanatophoric dw)
Folate Polymorphism 3' 5 MTHFR ( 677C>T, 1298 A>C)
Fragile X Screen- PCR based
Fragile XA- methylation test
Friedreich Ataxia
G-6-PD one mutation
Galatosemia gene sequencing (GALT)
Gaucher's disease (4 common mutations)
Gilbert's disease (UGT1A1 Promoter polymorphism)
Glycogen storage 1a gene sequencing
Hallorverden-Spantz disease (PND by linkage)
Hypochondroplasia (Sequencing)
Hemochromatosis (2 mutations in HFE gene)
Hemophilia A/B, Carrier test
Hemophilia A/B, (Prenatal diagnosis)
Herpes Virus infection (PCR)
Hunter Syndrome - deletions
Huntington disease
Hypochondroplasia-common mutation C1620A in FGFR3
Jak 2 mutation
Krabbes disease- common deletion
Leb Hered Optic Atrophy- 3 mutations
Lowe Syndrome - linkage studies/ family
Lowe Syndrome - Prenatal diagnosis-linkage
Maternal Cell Contamination
Marfan Syndrome-linkage studies
Marfan Syndrome - Prenatal diagnosis-linkage studies/ family
MCAD mutation (Medium chain acyl-coA dehyd)
McArdle disease (R49 X mutation, Sequencing)
Merosin deficiency-linkage/ PND
Metaphyseal Dysplasia-COL 10A gene sequencing
Mitochondrial/ LEIGHS or NARP-3 mutations
Mitochondrial 1/ MELAS + MERRF-5 mutations
Mitochondrial package (110, 111)
Mitochondrial genome- deletion/duplication
Mytotonic dystrophy- type 1-19q 13.3
Mytotonic dystrophy- type 2- 3q 21
NCL -infantile (2 mutation)
NCL -infantile (2 mutation)
NCL –Juvenile (Batten Dis) deletion
Neuroblastomatosis (linkage, PND)
Parkinson disease (Gly 19 ser mutation, by sequencing)
Parvo virus-PCR
Pelizaeus Merzbacher deletion/duplication
Polycystic Kidney dis (Aut. Rec. ARPKD) PND by linkage
Porphyria- Acute intermittent Common Mutation
Porphyria- Sequencing of Porphobilinogen gene
Prader Willi Syndrome-methylation test
Prothrombin gene polymorphism (G20210A)
Restrictive Dermopathy (Specific mutation by sequencing)
Retinoblastoma- deletion/duplication
Retinoblastoma (Prenatal diagnosis by linkage)
Retinoblastoma gene sequencing
Rett Syndrome MECP2 deletion/ duplication
Rett Syndrome MECP2 -Sequencing
Rh typing - (Rh+ or Rh-)
Rh typing on fetal DNA in maternal blood
Rubella (PCR)
Russel Silver Syndrome (UP Disomy)
Spinal Muscular atrophy, diagnosis
Spinal Muscular atrophy-PND
SMA Carrier Screening for deletion
Spinal Muscular atrophy- SMN 1 gene sequencing
Spino- Cerebellar ataxia -One type
Spino- Cerebellar ataxia -Two type
Spino- Cerebellar ataxia -package (1,2,3,6,7,8,12, 17 DRPLA)
Spinal bulbar muscular atrophy (SBMA) CAG repeats
Spondyloepiphyseal dysplasia X-linked gene sequencing
Sry+Amxy gene study (Y chromosome)
Subtelomeic deletions & duplications
Thalassemia-beta (Confirmation of known mutation)
Thalassemia-beta mutation study ( 5 common mutation)
Thalassemia-beta globin gene sequencing
Thalassemia-Prenatal diagnosis
Thalassemia-Prenatal diagnosis-Repeat at GRH
Thanotrophic dwarfism (common mutation)
Thanotrophic dwarfism sequencing
Thrombophilia Profile- 3 genes- MTHFR, Factor v Leiden,Prothrombin Toxoplasmosis (PCR)
Waardenburg Syndrome Pax 3 gene sequencing
Waardenburg Shah syn- EDN3 gene-3 80A>G
Wilson linkage presymptomatic
Wilson diseases-PND by linkage
Wilson diseases-ATP7B gene sequencing
UGT1A1 * 28 Genotyping
X-linked ichthyosis (Deletion in STS gene)
XMN Polymorphism Gr gene (thalassemia child)
Y-Chromosome deletions (10)
HLA (DNA)
AB
AB+DR - Additional person (beyond 2 persons)
AB+DR - One person
AB+DR - Two persons
AB+DR+DQ
B27
DQ Alpha - Recurrent abortions
DQ Beta - Recurrent abortions
DQ Alpha & beta - Recurrent abortions
DR2-Narcolepsy, M.S. Goodpasture syndrome
DQ2/DQ8 Celiac disease High risk genotype
DR3- , Addison disease, Derm Nerpc HLA-B5, Behcet's disease
HLA- Y STR Polymorphism (for two)
Gene Based Diagnosis for Common Diseases
Personal Genome Scan - deCODEme
Gene based diagnosis of Type 2 Diabetes-deCODE T2™
Gene based diagnosis of Myocardial Infarction-deCODE MI™
Gene based diagnosis of Glucoma-deCODE Glaucoma™
Gene based diagnosis of Prostate Cancer-deCODE ProCa™
Gene based diagnosis of Breast Cancer-deCODE Breast Cancer™
Detection of Pathogens by DNA Macro-chips
Brain Infections
Meningitis Screening
Encephalitis Screening
Critical Care ( Icu) : Septiceamia & Febrile Neutropenia
Post Transplant Infection
Septicaemia Screening
Febrile Neutropenia Screening
Eye Infections
Viral Retinitis Screening
Uveitis Screening
Keratocunjunctivitis Screening
Infectious Endopthalmitis Screening
Infections Of Obg & Infertility
Infertility Screening
Cervical Cancer Screening
Transplant - Solid Organ & Bone Marrow
Transplant Recipient & Transplant Donor
Tuberculosis - Pulmonary & Extrapulmonary
Pulmonary TB
Renal TB
Bone TB
Endometrial TB
Neonetal Screening
Pre-marital Screening
Food Intolerance
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