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) Back   Download Test Request Forms | Download Brochures | Important Links       Resources | Test Centers | FAQ's | Privacy Policy | Delivery Policy | Return Policy | Contact Us | Sitemap © 2009 Eastern Biotech     Share