E-Tender Notice For Selection Of Diagnostic Centre For High End Laboratory And Radiological Investigation Service For Patients For A Period Of Two Years ( From The Date Of Issuance Of Work Order ) By Ipgme And R-Sskm Hospitals, Kolkata , Genetics Tests , Nbs Duo ( Iem Screening ) ( Tms+Gcms ) , Karyotype ( Pvb ) , Mlpa ( 20 Microdeletion & Microduplication ) * , Methylation Specific Multiplex Ligation Probe Assay ( Ms -Mlpa ) , Fish ( 13, 18, 21, X, Y ) , Qf-Pcr – Basic ( 13, 18, 21, X, Y ) , Microarraycytoscan ( 750K ) : 100Kb – Losses, 500 Kb - Gain & 5Mb - Loh / Aoh , Microarraycytoscan Optima ( 315K ) : 500Kb – Losses, 1Mb - Gain & 5Mb - Loh / Aoh , Clinical Exome Sequencing , Whole Exome Sequencing , Mitochondrial Genome Sequencing , Clinical Exome Sequencing + Mitochondrial Genome Sequencing , Whole Exome Sequencing + Mitochondrial Genome Sequencing , Whole Genome Sequencing , Sanger Sequencing 1 Variants , Sanger Sequencing 2 Variants , Sanger Sequencing 3 Variants , Fragile X Syndrome , Endocrinology , Congenital Hypopituitarism , Kallman’S Syndrome , Maturity-Onset Diabetes Of The Young ( Mody ) & Neonatal Diabetes Gene Panel , Disorders Of Sexual Development ( Dsd ) , Osteogenesis Imperfecta Gene Panel , Congenital Adrenal Insufficiency Gene Panel , Congenital Hypothyroidism Gene Panel , Monogenic And Syndromic Obesity Gene Panel , Neonatal Hypoglycemia Gene Panel , Congenital Adrenal Hyperplasia Cyp21a2 ( 21-0H ) Ngs And Deletion / Duplication Analysis , Skeletal Dysplasia Gene Panel , Congenital Adrenal Hyperplasia Cyp21a2 ( 21-0H ) Ngs And Deletion / Duplication Analysis , Hemolytic Uremic Syndrome ( Hus ) , Hereditary Pancreatitis Gene Panel , Y Chromosome Microdeletion , Hereditary Disorders Of Lipid Metabolism And Transport , Atp13a2 Gene Analysis , Jac-2 Mutation , Park7 Gene Analysis , Multiple Endocrine Neoplasia , Mecp2 Mutation , Syndromic Short Stature , Rapsyn Gene Analysis , Adrenal Adenoma Gene Panel , Hereditary Acromegaly Gene Panel , Nephrogenic Diabetes Insipidus , Nephrology , Alport Syndrome Gene Panel , Primary Hyperoxaluria , Xanthinuria Gene Panel , Defects In Calcium Homeostasis ( Eg: Hypocalcemia , Defects In Magnesium Homeostasis ( Eg: Gitelman Syndrome, Hypomagnesemia, , Defects In Renal Phosphate Handling ( Eg:Hypophosphatemia, Hypophosphatemic Rickets, Hyperphosphatemic Tumoral Calcinosis , Defects Of Renal Handling Of Amino Acids ( Eg:Cystinuria, Dicarboxylic Aminoaciduria, Hyperglycinuria ) , Fanconi Syndrome ( Eg: Dent Disease, Lowe Syndrome, Pepck Deficiency ) , Focal Segmental Glomerulosclerosis , Hyperoxaluria , Meckel Syndrome , Medullary Cystic Kidney Disease ( Eg: Renal Cysts And Diabetes Syndrome, Medullary Cystic Kidney Disease ) , Nephrogenic Diabetes Insipidus , Polycystic Kidney Disease ( Eg:Polycystic Kidney Disease#, Gillessen-Kaesbach-Nishimura Syndrome ) , Pseudohypoaldosteronism ( Eg: Liddle Syndrome, Pseudo Hypoaldosterone ) , Renal Diseases Of Glucose Handling ( Eg:Fanconi-Bickel Syndrome, Glucose / Galactose Malabsorption, Renal Glycosuria ) , Renal Tubular Acidosis , Renal Tubular Dysgenesis , Ureteral Disorder ( Eg:Vesicoureteral Reflux ) , Zellweger Syndrome , Atypical Hemolytic Uremic Syndrome , Hypercalciuria , Bartter Syndrome Gene Panel , Meckel Gruber Syndrome Gene Panel , Meckel Gruber Syndrome Gene Panel , Nephrotic Syndrome Gene Panel , Polycystic Kidney Disease Gene Panel , Nephropathies ( Eg:Nephronophthisis, Nephrotic Syndrome, Nephrolithiasis, Piersonsyndrome ) , Renal Uricosuria And Uricemia ( Eg:Cystinosis, Fabry Disease, Lesch-Nyhan Syndrome , Others Renaldisorders ( Eg: Barakat Syndrome, Townes-Brocks Syndrome, Serkalsyndrome, Renal-Hepatic-Pancreatic Dysplasia , Cakut ( Congenital Anomalies Of Kidney & Urinary Tract ) , Renaldysplasia, Renalagenesis , Ckd ( Chronic Kidney Disease ) , Bardet-Biedl Syndrome , Renal Tubular Acidosis , Neurology , Brown Vialetto–Van Laere Syndrome Gene Panel , Familial Hemiplegic Migraine Gene Panel , Rett Syndrome Gene Panel , Autism Spectrum Disorders ( Eg: Rett Syndrome ) , Intellectual Disability# ( Eg:Cornelia De Langes Syndrome, Neuronal Ceroid Lipofuscinosis, Syndromic Intellectual Disability , Leukodystrophies ( Eg:Aicardi-Goutières Syndrome, Hypomyelination / Demyelination, Zellweger Syndrome / Peroxisome Biogenesis Disorder , Macrocephaly , Brain Malformations‡ ( Eg:Agenesis Of The Corpus Callosum, Dandy-Walker Syndrome, Holoprosencephaly, Hydrocephalus, Lissencephaly, Meckel Syndrome, Polymicrogyria, Pontocerebellar Hypoplasia ) , Epilepsy# ( Eg:Epilepticencephalopathy, Infantilespasm ( West Syndrome ) , Lennox-Gastautsyndrome, Neuronal Ceroid Lipofuscinosis ) , Microcephaly ( Eg:Aicardi-Goutières Syndrome, Coffin-Siris Syndrome, Cornelia De Langes Syndrome, Seckel Syndrome , Aicardi-Goutieres Syndrome Gene Panel , Benign Infantile Epilepsy Gene Panel , Familial Female Mental Retardation / Epilepsy Gene Panel , Epileptic Encephalopathy Gene Panel , Progressive Myoclonic Epilepsy Gene Panel , Episodic Ataxia Gene Panel , Hyperekplexia Gene Panel , Dystonia Gene Panel , Early-Onset Juvenile Parkinsonism Gene Panel , Hereditary Spastic Paraplegia Gene Panel , Neurotransmitter Disorders Gene Pane , Myotonia Congenita Gene Panel , Amyotrophic Lateral Sclerosis , Myopathy ( Eg:Bethlemmyopathy, Congenitalfiber-Typedisproportion, Nemaline Myopathy ) , Spastic Paraplegia , Congenital Myasthenic Syndrome , Muscular Dystrophy ( Eg:Collagentypevi-Related Disorders, Dystrophinopathies, Emery-Dreifuss Muscular Dystrophy, Spinal Muscular Atrophy ) , Arthrogryposis Congenital Myasthenic Syndrome Gene Panel , Charcot-Marie-Tooth And Sensory Neuropathies Gene Panel , Muscular Dystrophy Congenital Myopathy Gene Panel , Spinal Muscular Atrophy Gene Panel ( Does Notincludesmn1 / Smn2 ) , Ataxia ( Eg:Cerebellarataxia, Epilepsy-Associatedataxia, Episodicataxia, Spino Ataxia# , Neuropathy ( Eg:Charcot-Marie-Tooth Disease ) , 4H Syndrome Gene Panel , Metachromatic Leukodystrophy Gene Panel , Neurodegeneration With Brain Iron Accumulation Gene Panel , Hypomyelination Syndrome Gene Panel , Joubert Syndrome Gene Panel , Leukodystrophy Gene Panel , Iron-Sulfur ( Fe-S ) Cluster Biogenesis ( Eg:Methemoglobinemia ) , Mitochondrial Membrane Transport Disorders ( Eg: Hhhsyndrome, Carnitine-Acylcarnitine Translocase Deficiency ) , Other Mitochondrial Disorders ( Eg:Perrault Syndrome, Pepck Deficiency, Mitochondrial ) , Disorders Of Fatty Acid, Ketone And Energy Metabolism ( Eg: Fatty Acid Oxidation Defects Such As Academy, Acads Andv Lca Ddeficiency, Fumarase Deficiency, Mitochondrial Dna Depletion Syndromes, Leigh Syndrome, Mitochondrialcomplex Deficiency ) , Notch-3 Gene Studies , Mthfr Gene Analysis , Pediatric And Neonatology , Disorders In The Metabolism Of Trace Elements And Metals ( Eg: Menkes Disease, Wilson Disease, Hypomagnesemia, Hemochromatosis, Gitelman Syndrome ) , Disorders Of Amino Acid And Peptide Metabolism ( Eg: Maple Syrup Urine Disease, Urea Cycle Disorders, Organic Acidurias, Phenylketonuria, Homocystinuria ) , Disorders Of Carbohydrate Metabolism ( Eg:Glycogen Storage Disorders, Galactosemia, Hereditary Fructose Intolerance, Pyruvate Carboxylase Deficiency ) , Disorders Of Lipid And Lipoprotein Metabolism ( Eg: Inherited Hypercholesterolaemia, Hypertriglyceridemias, Hypolipidemias, Alagille Syndrome, Adrenal Hyperplasia# ) , Disorders Of Neurotransmitters Metabolism ( Eg: Gaba - Transaminase Deficiency, Segawa Syndrome ) , Disorders Of Vitamins And Co-Factor Metabolism ( Megaloblastic Anemia, Molybdenum Cofactor Deficiency ) , Fatty Acid And Peroxisomal Disorders ( Eg:Fatty Acid Oxidation Disorders, Zellweger Syndrome Spectrum, Carnitine Deficiency ) , Disorders Of The Metabolism Of Sterols ( Eg: Smith-Lemli-Opitz Syndrome, Progressive Familial Intrahepatic Cholestasis ) , Disorders Of Purines, Pyrimidines And Nucleotide Metabolism ( Eg: Adenylosuccinase Deficiency, Dihydropyrimidine Dehydrogenase Deficiency , Lysosomal Storage Disorders ( Eg: Mucopoly-Saccharidoses, Gangliosidosis, Niemann-Pick Disease, Gaucher Disease ) , Congenital Disorders Of Glycosylation , Amino Acid Disorders , Fatty Acid Oxidation Disorders , Galactosemias , Citrullinemia Gene Panel , Glycine Encephalopathy Gene Panel , Glycogen Storage Disorder Gene Panel , Homocystinuria Gene Panel , Mucopolysaccharidosis Gene Panel , Niemann-Pick Disease Gene Panel , Peroxisomal Disorder Gene Panel ( Includes Adrenoleukodystrophy ) , Phenylketonuria ( Pah ) Gene Analysis , Urea Cycle Defects Gene Panel , Fatty Acid Oxidation Disorders Gene Panel , Glycosylation ( Cdg ) Disorders Gene Panel , Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel , Methylmalonic Aciduria Gene Panel , Organic Acidemia Gene Panel , Organic Acid Disorders , Gynaecology / Fetal Medicine / Ivf , Combined Screening ( Prisca ) , Combined Screening ( Delfia ) , Penta Marker , 1T Quad , Triple Marker , Quadruple Marker , Non-Invasive Prenatal Testing ( Nipt ) Basic , Non-Invasive Prenatal Testing ( Nipt ) All Chromosome , Qfpcr Basic- 13, 18, 21, X, Y , Qfpcr- 13, 15, 16, 18, 21, 22, X, Y+ Mdel / Mdup ( Without Mcc ) , Qfpcr- 13, 15, 16, 18, 21, 22, X, Y+ Mdel / Mdup ( With Mcc ) , Karyotyping-Peripheral Venous Blood / Cord Blood , Qfpcrbasic+Kt , Cma 315K+Kt , Abortus-Qfpcr Expanded+20Mdd ( Mlpa ) , Chromosomal Microarray ( 315K ) , Chromosomal Microarray ( 750K ) , Couple Kt , Clinical Exome Sequencing , Whole Exome Sequencing , Couple Carrier Screening , Infergene Infertility-Male Or Female ( Single ) , Y Chromosome Microdeletion ( Ycmd ) , Infergene Infertility With Kt ( Single ) , Male Infertility Basic ( X Chromosome, Ycmd, Cftr ) , Male Infertility Basic+Cma 315K+Kt , Hbb Gene Sequencing , Hbb Gene Sequencing-Trio Analysis , Carrier Screening , Brca 1 & Brca 2
