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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

Microdeletion Syndrome
• Williams Syndrome
• Retinoblastoma
• Prader Willli's Syndrome
• 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)



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