| 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 |