Re E-Tender For Selection Of Diagnostic Centre For High End Laboratory & Radiological Investigation Service For Patients For A Period Of Two Years ( From The Date Of Issuance Of Work Order ) Byipgme&R-Sskm Hospitals, Kolkata ( 2Nd Call--- 1 Genetics tests 2 NBS DUO (IEM Screening)(TMS+GCMS) 3 Karyotype (PVB) 4 MLPA (20 Microdeletion & Microduplication) * 5 Methylation Specific Multiplex Ligation Probe Assay (MS -MLPA) 6 FISH(13,18,21,X,Y) 7 Qf-PCR – Basic (13,18,21, X,Y) 8 MicroArrayCytoScan (750K): 100Kb – Losses, 500 Kb - Gain & 5MB - LOH/AOH 9 MicroArrayCytoScan Optima (315K): 500Kb – Losses, 1Mb - Gain & 5MB - LOH/AOH 10 Clinical Exome Sequencing 11 Whole Exome Sequencing 12 Mitochondrial Genome Sequencing 13 Clinical Exome Sequencing + Mitochondrial Genome Sequencing 14 Whole Exome Sequencing + Mitochondrial Genome Sequencing 15 Genome Sequencing 16 Whole Genome Sequencing 17 Sanger Sequencing 1 Variants 18 Sanger Sequencing 2 Variants 19 Sanger Sequencing 3 Variants 20 Fragile X syndrome 21 Endocrinology 22 Congenital Hypopituitarism 23 Kallman’s syndrome 24 Maturity-onset diabetes of the young (MODY) & neonatal diabetes gene panel 25 Disorders of sexual development (DSD) 26 Osteogenesis Imperfecta Gene Panel 27 Congenital Adrenal Insufficiency Gene Panel 28 Congenital hypothyroidism Gene Panel 29 Monogenic and syndromic obesity Gene Panel 30 Neonatal hypoglycemia Gene Panel 31 Congenital adrenal hyperplasia CYP21A2 (21-0H) NGS and deletion/duplication analysis 32 Skeletal Dysplasia Gene Panel 33 Congenital adrenal hyperplasia CYP21A2 (21-0H) NGS and deletion/duplication analysis 34 Hemolytic uremic Syndrome (HUS) 35 Hereditary Pancreatitis Gene Panel 36 Y chromosome Microdeletion 37 Hereditary disorders of lipid metabolism and transport 38 ATP13A2 Gene Analysis 39 JAC-2 Mutation 40 PARK7 Gene Analysis 41 Multiple Endocrine Neoplasia 42 MECP2 mutation 43 Syndromic Short Stature 44 RAPSYN Gene Analysis 45 Adrenal adenoma Gene Panel 46 Hereditary Acromegaly Gene Panel 47 Nephrogenic Diabetes Insipidus 48 Nephrology 49 Alport Syndrome Gene Panel 50 Primary Hyperoxaluria 51 Xanthinuria Gene Panel 52 Defects in Calcium Homeostasis (eg: Hypocalcemia 53 Defects in magnesium homeostasis (eg: Gitelman syndrome, Hypomagnesemia, 54 Defects in renal phosphate handling (eg:Hypophosphatemia,Hypophosphatemic Rickets,Hyperphosphatemic Tumoral Calcinosis 55 Defects of renal handling of amino acids (eg:Cystinuria,Dicarboxylic Aminoaciduria,Hyperglycinuria) 56 Fanconi Syndrome (eg: Dent Disease,Lowe Syndrome,PEPCK deficiency) 57 Focal Segmental Glomerulosclerosis 58 Hyperoxaluria 59 Meckel Syndrome 60 Medullary Cystic kidney disease (eg: Renal Cysts and diabetes syndrome,Medullary Cystic kidney disease) 61 Nephrogenic Diabetes Insipidus 62 Polycystic Kidney Disease (eg:Polycystic Kidney Disease#,Gillessen-Kaesbach-Nishimura Syndrome) 63 Pseudohypoaldosteronism(eg: Liddle syndrome,Pseudo Hypoaldosterone) 64 Renal Diseases of glucose handling (eg:Fanconi-Bickel Syndrome, Glucose/galactose malabsorption, Renal Glycosuria) 65 Renal tubular acidosis 66 Renal tubular Dysgenesis 67 Ureteral Disorder (eg:Vesicoureteral Reflux) 68 Zellweger Syndrome 69 Atypical Hemolytic Uremic syndrome 70 Hypercalciuria 71 Bartter Syndrome Gene panel 72 Meckel Gruber Syndrome Gene panel 73 Meckel Gruber Syndrome Gene panel 74 Nephrotic Syndrome Gene panel 75 Polycystic Kidney disease gene panel 76 Nephropathies (eg:Nephronophthisis, Nephrotic Syndrome,Nephrolithiasis, Piersonsyndrome) 77 Renal Uricosuria and uricemia (eg:Cystinosis,Fabry disease,Lesch-Nyhan Syndrome 78 Others Renaldisorders(eg: Barakat Syndrome,Townes-Brocks Syndrome,SERKALsyndrome,Renal-hepatic-pancreatic dysplasia 79 CAKUT (congenital anomalies of kidney & urinary tract), RenalDysplasia,Renalagenesis 80 CKD (chronic kidney disease) 81 Bardet-biedl syndrome 82 Renal Tubular Acidosis 83 Neurology 84 Brown Vialetto–Van Laere Syndrome Gene Panel 85 Familial hemiplegic migraine gene panel 86 Rett Syndrome gene panel 87 Autism Spectrum Disorders (eg: Rett Syndrome) 88 Intellectual Disability# (eg:Cornelia de Langes syndrome,Neuronal Ceroid Lipofuscinosis,Syndromic Intellectual Disability 89 Leukodystrophies (eg:Aicardi-Goutières Syndrome,Hypomyelination/Demyelination,Zellweger Syndrome/Peroxisome Biogenesis Disorder 90 Macrocephaly 91 Brain Malformations‡ (eg:Agenesis Of the corpus callosum,Dandy-Walker Syndrome,Holoprosencephaly,Hydrocephalus,Lissencephaly,Meckel Syndrome,Polymicrogyria,Pontocerebellar Hypoplasia) 92 Epilepsy# (eg:Epilepticencephalopathy,Infantilespasm(West Syndrome),Lennox-GastautSyndrome,Neuronal Ceroid Lipofuscinosis) 93 Microcephaly (eg:Aicardi-Goutières syndrome,Coffin-Siris Syndrome,Cornelia de Langes syndrome,Seckel Syndrome 94 Aicardi-Goutieres Syndrome Gene Panel 95 Benign Infantile Epilepsy Gene Panel 96 Familial Female Mental Retardation/epilepsy gene panel 97 Epileptic Encephalopathy gene panel 98 Progressive myoclonic epilepsy gene panel 99 Episodic Ataxia Gene panel 100 Hyperekplexia gene panel 101 Dystonia gene panel 102 Early-onset juvenile parkinsonism gene panel 103 Hereditary spastic paraplegia gene panel 104 Neurotransmitter Disorders Gene pane 105 Myotonia Congenita Gene Panel 106 Amyotrophic lateral sclerosis 107 Myopathy (eg:BethlemMyopathy,CongenitalFiber-TypeDisproportion,Nemaline myopathy) 108 Spastic paraplegia 109 Congenital myasthenic syndrome 110 Muscular dystrophy (eg:CollagentypeVI-related disorders,Dystrophinopathies,Emery-Dreifuss Muscular Dystrophy,Spinal Muscular Atrophy) 111 Arthrogryposis congenital myasthenic syndrome gene panel 112 Charcot-Marie-Tooth and sensory neuropathies gene panel 113 Muscular Dystrophy Congenital Myopathy Gene panel 114 Spinal Muscular Atrophy Gene panel (does notincludeSMN1/SMN2) 115 Ataxia (eg:Cerebellarataxia,Epilepsy-associatedataxia,Episodicataxia,Spino Ataxia# 116 Neuropathy (eg:Charcot-Marie-Tooth disease) 117 4H Syndrome Gene Panel 118 Metachromatic Leukodystrophy Gene Panel 119 Neurodegeneration With brain iron accumulation gene panel 120 Hypomyelination Syndrome Gene panel 121 Joubert Syndrome Gene panel 122 Leukodystrophy gene panel 123 Iron-sulfur (Fe-S) cluster biogenesis (eg:Methemoglobinemia) 124 Mitochondrial membrane transport disorders (eg: HHHsyndrome, Carnitine-acylcarnitine translocase deficiency) 125 Other mitochondrial disorders (eg:Perrault syndrome, PEPCK deficiency,mitochondrial) 126 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 ) 127 NOTCH-3 gene studies 128 MTHFR gene analysis 129 Pediatric and Neonatology 130 Disorders in the metabolism of trace elements and metals (eg: Menkes disease, Wilson disease, Hypomagnesemia, Hemochromatosis, Gitelman syndrome) 131 Disorders of amino acid and peptide metabolism (eg: Maple syrup urine disease, urea cycle disorders, organic acidurias, phenylketonuria, homocystinuria) 132 Disorders of carbohydrate metabolism (eg:Glycogen Storage Disorders, Galactosemia, Hereditary Fructose intolerance, Pyruvate carboxylase deficiency) 133 Disorders of lipid and lipoprotein metabolism (eg: Inherited hypercholesterolaemia, Hypertriglyceridemias, Hypolipidemias, Alagille syndrome, Adrenal hyperplasia#) 134 Disorders of neurotransmitters metabolism (eg: GABA - transaminase deficiency, Segawa syndrome) 135 Disorders of vitamins and co-factor metabolism (Megaloblastic anemia, Molybdenum cofactor deficiency) 136 Fatty acid and peroxisomal disorders (eg:Fatty acid oxidation disorders, Zellweger Syndrome Spectrum, Carnitine deficiency) 137 Disorders of the metabolism of sterols (eg: Smith-Lemli-Opitz syndrome, Progressive familial intrahepatic cholestasis) 138 Disorders of purines, pyrimidines and nucleotide metabolism (eg: Adenylosuccinase deficiency, Dihydropyrimidine dehydrogenase deficiency 139 Lysosomal storage disorders (eg: Mucopoly-saccharidoses, Gangliosidosis, Niemann-Pick disease, Gaucher disease) 140 Congenital disorders of glycosylation 141 Amino Acid Disorders 142 Fatty Acid Oxidation Disorders 143 Galactosemias 144 Citrullinemia Gene Panel 145 Glycine Encephalopathy Gene Panel 146 Glycogen Storage Disorder Gene Panel 147 Homocystinuria Gene Panel 148 Mucopolysaccharidosis Gene Panel 149 Niemann-pick Disease Gene Panel 150 Peroxisomal Disorder Gene Panel (Includes Adrenoleukodystrophy) 151 Phenylketonuria (PAH) Gene Analysis 152 Urea Cycle Defects Gene Panel 153 Fatty Acid Oxidation Disorders Gene Panel 154 Glycosylation (CDG) Disorders Gene Panel 155 Leigh syndrome & mitochondrial encephalopathy gene panel 156 Methylmalonic Aciduria Gene Panel 157 Organic Acidemia Gene Panel 158 Organic Acid Disorders 159 Gynaecology/ Fetal Medicine / IVF 160 Combined Screening (Prisca) 161 Combined Screening (Delfia) 162 Penta Marker 163 1T Quad 164 Triple marker 165 Quadruple Marker 166 Non-Invasive Prenatal Testing (NIPT) Basic 167 Non-Invasive Prenatal Testing (NIPT) All Chromosome 168 QFPCR Basic- 13,18,21, X, Y 169 QFPCR- 13,15,16,18,21,22, X, Y+ Mdel/Mdup(without MCC) 170 QFPCR- 13,15,16,18,21,22, X, Y+ Mdel/Mdup (with MCC) 171 Karyotyping-Peripheral Venous Blood / Cord blood 172 QfpcrBasic+KT 173 CMA 315k+KT 174 Abortus-QFPCR Expanded+20MDD(MLPA) 175 Chromosomal Microarray (315K) 176 Chromosomal Microarray (750k) 177 Couple KT 178 Clinical Exome Sequencing 179 Whole Exome Sequencing 180 Couple Carrier Screening 181 Infergene Infertility-Male or Female (Single) 182 Y Chromosome Microdeletion (YCMD) 183 Infergene Infertility with KT(Single) 184 Male Infertility Basic (X chromosome,YCMD,CFTR) 185 Male Infertility Basic+CMA 315k+KT 186 Hbb Gene Sequencing 187 Hbb Gene Sequencing-Trio Analysis 188 Carrier Screening 189 BRCA 1 & BRCA 2
