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 Test, Kolkata-West Bengal

TDR : 32499008

Tender Notice
Corrigendum Details
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Kolkata , West Bengal

Tender Brief : Corrigendum : 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 Test

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₹ 50000.0 /-

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Submission Date
06-07-2022

Competition Type
Indian

Bidding Type
Tender

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Sr No	Corrigendum Date	Corrigendum	Type	New Submission Date
1	13-06-2022	CORRIGENDUM-1	Other	06-07-2022

Name of Work: E-TENDER NOTICE 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) BY IPGME&R-SSKM Hospitals, Kolkata

Sl. No.	Item Description
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	Whole Genome Sequencing
16	Sanger Sequencing 1 Variants
17	Sanger Sequencing 2 Variants
18	Sanger Sequencing 3 Variants
19	Fragile X syndrome
20	Endocrinology
21	Congenital Hypopituitarism
22	Kallman’s syndrome
23	Maturity-onset diabetes of the young (MODY) & neonatal diabetes gene panel
24	Disorders of sexual development (DSD)
25	Osteogenesis Imperfecta Gene Panel
26	Congenital Adrenal Insufficiency Gene Panel
27	Congenital hypothyroidism Gene Panel
28	Monogenic and syndromic obesity Gene Panel
29	Neonatal hypoglycemia Gene Panel
30	Congenital adrenal hyperplasia CYP21A2 (21-0H) NGS and deletion/duplication analysis
31	Skeletal Dysplasia Gene Panel
32	Congenital adrenal hyperplasia CYP21A2 (21-0H) NGS and deletion/duplication analysis
33	Hemolytic uremic Syndrome (HUS)
34	Hereditary Pancreatitis Gene Panel
35	Y chromosome Microdeletion
36	Hereditary disorders of lipid metabolism and transport
37	ATP13A2 Gene Analysis
38	JAC-2 Mutation
39	PARK7 Gene Analysis
40	Multiple Endocrine Neoplasia
41	MECP2 mutation
42	Syndromic Short Stature
43	RAPSYN Gene Analysis
44	Adrenal adenoma Gene Panel
45	Hereditary Acromegaly Gene Panel
46	Nephrogenic Diabetes Insipidus
47	Nephrology
48	Alport Syndrome Gene Panel
49	Primary Hyperoxaluria
50	Xanthinuria Gene Panel
51	Defects in Calcium Homeostasis (eg: Hypocalcemia
52	Defects in magnesium homeostasis (eg: Gitelman syndrome, Hypomagnesemia,
53	Defects in renal phosphate handling (eg:Hypophosphatemia,Hypophosphatemic Rickets,Hyperphosphatemic Tumoral Calcinosis
54	Defects of renal handling of amino acids (eg:Cystinuria,Dicarboxylic Aminoaciduria,Hyperglycinuria)
55	Fanconi Syndrome (eg: Dent Disease,Lowe Syndrome,PEPCK deficiency)
56	Focal Segmental Glomerulosclerosis
57	Hyperoxaluria
58	Meckel Syndrome
59	Medullary Cystic kidney disease (eg: Renal Cysts and diabetes syndrome,Medullary Cystic kidney disease)
60	Nephrogenic Diabetes Insipidus
61	Polycystic Kidney Disease (eg:Polycystic Kidney Disease#,Gillessen-Kaesbach-Nishimura Syndrome)
62	Pseudohypoaldosteronism(eg: Liddle syndrome,Pseudo Hypoaldosterone)
63	Renal Diseases of glucose handling (eg:Fanconi-Bickel Syndrome, Glucose/galactose malabsorption, Renal Glycosuria)
64	Renal tubular acidosis
65	Renal tubular Dysgenesis
66	Ureteral Disorder (eg:Vesicoureteral Reflux)
67	Zellweger Syndrome
68	Atypical Hemolytic Uremic syndrome
69	Hypercalciuria
70	Bartter Syndrome Gene panel
71	Meckel Gruber Syndrome Gene panel
72	Meckel Gruber Syndrome Gene panel
73	Nephrotic Syndrome Gene panel
74	Polycystic Kidney disease gene panel
75	Nephropathies (eg:Nephronophthisis, Nephrotic Syndrome,Nephrolithiasis, Piersonsyndrome)
76	Renal Uricosuria and uricemia (eg:Cystinosis,Fabry disease,Lesch-Nyhan Syndrome
77	Others Renaldisorders(eg: Barakat Syndrome,Townes-Brocks Syndrome,SERKALsyndrome,Renal-hepatic-pancreatic dysplasia
78	CAKUT (congenital anomalies of kidney & urinary tract), RenalDysplasia,Renalagenesis
79	CKD (chronic kidney disease)
80	Bardet-biedl syndrome
81	Renal Tubular Acidosis
82	Neurology
83	Brown Vialetto–Van Laere Syndrome Gene Panel
84	Familial hemiplegic migraine gene panel
85	Rett Syndrome gene panel
86	Autism Spectrum Disorders (eg: Rett Syndrome)
87	Intellectual Disability# (eg:Cornelia de Langes syndrome,Neuronal Ceroid Lipofuscinosis,Syndromic Intellectual Disability
88	Leukodystrophies (eg:Aicardi-Goutières Syndrome,Hypomyelination/Demyelination,Zellweger Syndrome/Peroxisome Biogenesis Disorder
89	Macrocephaly
90	Brain Malformations‡ (eg:Agenesis Of the corpus callosum,Dandy-Walker Syndrome,Holoprosencephaly,Hydrocephalus,Lissencephaly,Meckel Syndrome,Polymicrogyria,Pontocerebellar Hypoplasia)
91	Epilepsy# (eg:Epilepticencephalopathy,Infantilespasm(West Syndrome),Lennox-GastautSyndrome,Neuronal Ceroid Lipofuscinosis)
92	Microcephaly (eg:Aicardi-Goutières syndrome,Coffin-Siris Syndrome,Cornelia de Langes syndrome,Seckel Syndrome
93	Aicardi-Goutieres Syndrome Gene Panel
94	Benign Infantile Epilepsy Gene Panel
95	Familial Female Mental Retardation/epilepsy gene panel
96	Epileptic Encephalopathy gene panel
97	Progressive myoclonic epilepsy gene panel
98	Episodic Ataxia Gene panel
99	Hyperekplexia gene panel
100	Dystonia gene panel
101	Early-onset juvenile parkinsonism gene panel
102	Hereditary spastic paraplegia gene panel
103	Neurotransmitter Disorders Gene pane
104	Myotonia Congenita Gene Panel
105	Amyotrophic lateral sclerosis
106	Myopathy (eg:BethlemMyopathy,CongenitalFiber-TypeDisproportion,Nemaline myopathy)
107	Spastic paraplegia
108	Congenital myasthenic syndrome
109	Muscular dystrophy (eg:CollagentypeVI-related disorders,Dystrophinopathies,Emery-Dreifuss Muscular Dystrophy,Spinal Muscular Atrophy)
110	Arthrogryposis congenital myasthenic syndrome gene panel
111	Charcot-Marie-Tooth and sensory neuropathies gene panel
112	Muscular Dystrophy Congenital Myopathy Gene panel
113	Spinal Muscular Atrophy Gene panel (does notincludeSMN1/SMN2)
114	Ataxia (eg:Cerebellarataxia,Epilepsy-associatedataxia,Episodicataxia,Spino Ataxia#
115	Neuropathy (eg:Charcot-Marie-Tooth disease)
116	4H Syndrome Gene Panel
117	Metachromatic Leukodystrophy Gene Panel
118	Neurodegeneration With brain iron accumulation gene panel
119	Hypomyelination Syndrome Gene panel
120	Joubert Syndrome Gene panel
121	Leukodystrophy gene panel
122	Iron-sulfur (Fe-S) cluster biogenesis (eg:Methemoglobinemia)
123	Mitochondrial membrane transport disorders (eg: HHHsyndrome, Carnitine-acylcarnitine translocase deficiency)
124	Other mitochondrial disorders (eg:Perrault syndrome, PEPCK deficiency,mitochondrial)
125	Disorders of fatty acid,ketone and energy metabolism(eg: Fatty acid oxidation defects such as ACADEMY,ACADS andV LCA D\"Deficiency,Fumarase Deficiency,Mitochondrial DNA depletion syndromes, Leigh syndrome,Mitochondrialcomplex deficiency )
126	NOTCH-3 gene studies
127	MTHFR gene analysis
128	Pediatric and Neonatology
129	Disorders in the metabolism of trace elements and metals (eg: Menkes disease, Wilson disease, Hypomagnesemia, Hemochromatosis, Gitelman syndrome)
130	Disorders of amino acid and peptide metabolism (eg: Maple syrup urine disease, urea cycle disorders, organic acidurias, phenylketonuria, homocystinuria)
131	Disorders of carbohydrate metabolism (eg:Glycogen Storage Disorders, Galactosemia, Hereditary Fructose intolerance, Pyruvate carboxylase deficiency)
132	Disorders of lipid and lipoprotein metabolism (eg: Inherited hypercholesterolaemia, Hypertriglyceridemias, Hypolipidemias, Alagille syndrome, Adrenal hyperplasia#)
133	Disorders of neurotransmitters metabolism (eg: GABA - transaminase deficiency, Segawa syndrome)
134	Disorders of vitamins and co-factor metabolism (Megaloblastic anemia, Molybdenum cofactor deficiency)
135	Fatty acid and peroxisomal disorders (eg:Fatty acid oxidation disorders, Zellweger Syndrome Spectrum, Carnitine deficiency)
136	Disorders of the metabolism of sterols (eg: Smith-Lemli-Opitz syndrome, Progressive familial intrahepatic cholestasis)
137	Disorders of purines, pyrimidines and nucleotide metabolism (eg: Adenylosuccinase deficiency, Dihydropyrimidine dehydrogenase deficiency
138	Lysosomal storage disorders (eg: Mucopoly-saccharidoses, Gangliosidosis, Niemann-Pick disease, Gaucher disease)
139	Congenital disorders of glycosylation
140	Amino Acid Disorders
141	Fatty Acid Oxidation Disorders
142	Galactosemias
143	Citrullinemia Gene Panel
144	Glycine Encephalopathy Gene Panel
145	Glycogen Storage Disorder Gene Panel
146	Homocystinuria Gene Panel
147	Mucopolysaccharidosis Gene Panel
148	Niemann-pick Disease Gene Panel
149	Peroxisomal Disorder Gene Panel (Includes Adrenoleukodystrophy)
150	Phenylketonuria (PAH) Gene Analysis
151	Urea Cycle Defects Gene Panel
152	Fatty Acid Oxidation Disorders Gene Panel
153	Glycosylation (CDG) Disorders Gene Panel
154	Leigh syndrome & mitochondrial encephalopathy gene panel
155	Methylmalonic Aciduria Gene Panel
156	Organic Acidemia Gene Panel
157	Organic Acid Disorders
158	Gynaecology/ Fetal Medicine / IVF
159	Combined Screening (Prisca)
160	Combined Screening (Delfia)
161	Penta Marker
162	1T Quad
163	Triple marker
164	Quadruple Marker
165	Non-Invasive Prenatal Testing (NIPT) Basic
166	Non-Invasive Prenatal Testing (NIPT) All Chromosome
167	QFPCR Basic- 13,18,21, X, Y
168	QFPCR- 13,15,16,18,21,22, X, Y+ Mdel/Mdup(without MCC)
169	QFPCR- 13,15,16,18,21,22, X, Y+ Mdel/Mdup (with MCC)
170	Karyotyping-Peripheral Venous Blood / Cord blood
171	QfpcrBasic+KT
172	CMA 315k+KT
173	Abortus-QFPCR Expanded+20MDD(MLPA)
174	Chromosomal Microarray (315K)
175	Chromosomal Microarray (750k)
176	Couple KT
177	Clinical Exome Sequencing
178	Whole Exome Sequencing
179	Couple Carrier Screening
180	Infergene Infertility-Male or Female (Single)
181	Y Chromosome Microdeletion (YCMD)
182	Infergene Infertility with KT(Single)
183	Male Infertility Basic (X chromosome,YCMD,CFTR)
184	Male Infertility Basic+CMA 315k+KT
185	Hbb Gene Sequencing
186	Hbb Gene Sequencing-Trio Analysis
187	Carrier Screening
188	BRCA 1 & BRCA 2

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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 Test, Kolkata-West Bengal

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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 Test, Kolkata-West Bengal

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