Karyotyping | F.I.S.H. Cytogenetic studies | Microdeletion Syndrome | Leukemias | HLA DNA Tests in Dubai, Kuwait

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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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Eastern Biotech & Life Sciences FZ-LLC

Eastern Biotech outsources its tests to internationally accredited laboratories after collecting samples from the local hospitals and clinics. It's currently in the process of setting up its own diagnostic facility in Al Barsha, Dubai. "Watch This Space!!"


	Modified On: May 23, 2013
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