Genomic Services

Disease - Specific Tests
Test Name Test Details Test Method Turn Around Time Price(INR) per Sample
Screening for Inherited Disorders Detects mutation in 550 genes implicated in paediatric onset inherited diseases
Major Forms-Cystic Fibrosis,Marfan syndrome,Alport Syndrome etc.
NGS 6 - 8 weeks 28,000
Genome - wide Chromosomal Abnormalities Detects segmental deletion/ duplication in multiple genes involved in developmental delays,mental retardation and related conditions Microarray 4 - 6 weeks 30,000
Autism Spectrum Disorder Screening Detects mutation in 98 genes linked with developmental delays
Major forms - PDD, Rett Syndrome, Autistic disorder, Asperger's Syndrome etc
NGS 6 - 8 weeks 25,000
Screening for Neuro-muscular Disorders Detects mutation in 34 genes implicated in various forms of muscular dystrophies and neuropathies
Major forms - DMD, INAD, HSP etc
NGS 6 - 8 weeks 25,000
Detection of Common Inherited Renal Disorders Detects mutations in genes responsible for inherited renal disorders including aHUS, Alport Syndrome, PKD, FSGS,Nephrotic Syndrome & Hyperoxaluria NGS 6 - 8 weeks 25,000
Cystic Fibrosis Hotspot Detects del508F mutation found in ~30-50 % of Indian CF patients Sanger Sequencing 4 weeks 4,000
Cystic Fibrosis All Exons Tier 2 test for CF
Detects mutation in all exons of CFTR gene
NGS 6 - 8 weeks 28,000
Familial Cancer Risk Screening Detects mutations in 37 genes implicated in various forms of herediatary cancer
Major Forms-Breast,Ovarian,colo-rectal cancer
NGS 6 - 8 weeks 25,000
BRCA1 and BRCA2 gene Mutation Screening Detects mutations in BRCA1 and BRCA2 genes causing Herediatary Breast & Ovarian Cancer(HBOC) NGS 4 weeks 18,000
Cardiomyopathy Risk Screening Detects mutations in 46 genes implicated in different forms of inherited Cardiomyopathies
Major forms - HCM,DCM,ARVC and LVNC
NGS 6 - 8 weeks 25,000
Tumor Mutation Profiling Detects somatic mutations in 46 common oncogenes
covers ~ 2800 cosmic mutations from the oncogenes
NGS 6 - 8 weeks 25,000
Clinical Exome Profiling Sequences coding regions of 4800+ genes
Investigation for unclear and ambiguous presentations
NGS 6 - 8 weeks 38,000
Whole Exome Profiling Sequences coding regions of entire genome
Investigation for unclear presentations that cannot be linked to a specific disease
NGS 6 - 8 weeks 65,000
Single mutation Screening in any gene Mutation Screening in any gene
Validation of a mutation in other family members
Sanger Sequencing 2 - 3weeks 4,000 per mutation

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