NGS DIAGNOSTICS PANEL

Comprehensive. Accurate. Actionable.

Next Generation Sequencing (NGS) for advanced insights that transform diagnosis, guide therapy and improve lives. Comprehensive genomic testing for rare diseases, oncology, hereditary conditions, infectious diseases and personalized medicine.

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HIGH COVERAGE

Deep sequencing for maximum detection

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BROAD DETECTION

Viral & bacterial pathogen coverage

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CLINICALLY ACTIONABLE

Supports precision diagnosis & care

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FAST TURNAROUND

Timely results for better patient outcomes

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COMPREHENSIVE REPORTS

Clear, accurate & clinically interpretable

NGS DIAGNOSTICS PANELS

Comprehensive genomic testing for advanced molecular diagnosis and precision medicine

S.NO. GENETIC TESTING SERVICE NGS PLATFORM SPECIFICATION TAT SPECIMEN IMPACT OF THE PANEL USE OF PANEL BOOK AN
APPOINTMENT
1
 Whole Exome Sequencing
(Germline) 		Illumina
NovaSeq X 		19,433 genes (only coding regions)
100X Coverage + ≥90%
Clinical Report 		3 week FFPE /
Blood/Section 		Identifies pathogenic variants causing rare Mendelian disorders useful for diagnosis and informed family counselling. Diagnosis of rare inherited disorders, prenatal disorders, undiagnosed conditions.
2
 Whole Exome Sequencing
(Somatic) 		Illumina
NovaSeq X 		19,433 genes
100X Coverage + ≥90%
Clinical Report 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects somatic mutations and actionable alterations in tumors for precision oncology. Cancer diagnosis, therapy selection, prognosis, monitoring minimal residual disease.
3
 Human Whole
Genome Sequencing 		Illumina
NovaSeq X Plus 		30X Coverage
Clinical Report
Pharmacogenomics 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Comprehensive detection of SNVs, CNVs, structural variants & pharmacogenomic information. Rare disease diagnosis, complex cases, resolution, prevention.
4
 Gut Microbiome Nanopore 2–3 Gb Data
Clinical Report 		3 week Stool Sample Assesses gut microbial diversity & imbalance linked to GI and systemic diseases. IBS, IBD, obesity, metabolic disorders, probiotic therapy guidance.
5
 Comprehensive
Hereditary Panel 		Illumina
NovaSeq X Plus 		3,000+ genes
Clinical Report 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects pathogenic variants associated with hereditary disorders and family history. Hereditary disorder screening, preventive care, family counselling.
6
 High Penetrance
Cancer Susceptibility Panel 		Illumina
NovaSeq X Plus 		BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53, CHEK2, ATM, RAD51C, RAD51D and NPF1 3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Identifies high-risk mutations for hereditary cancer susceptibility. Hereditary breast/ovarian cancer, Lynch syndrome and related risk assessment.
7
 Ovarian Cancer
Susceptibility Panel 		Illumina
NovaSeq X Plus 		ATM, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D and NPF1 3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects genetic variants increasing ovarian cancer risk. Risk stratification, surveillance, family screening, counselling.
8
 Homologous Recombination
Repair (HRR) Germline Panel 		Illumina
NovaSeq X Plus 		CDK12, CHEK2, RAD51C,
BRCA1, BRCA2, BRIP1,
ERCC2, PALB2, FANCA 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Identifies HRR gene defects, helps response to PARP inhibitors & precision therapies. Treatment selection in ovarian, breast, prostate & pancreatic cancers.
9
 Prostate Cancer
Susceptibility Testing Panel 		Illumina
NovaSeq X Plus 		ATM, BRCA1, BRCA2, CHEK2,
HOXB13, PALB2, MSH2, MSH6
MLH1, PMS2 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects genetic variants linked to prostate cancer risk. Risk assessment, early detection & management.
10
 Pancreatic Cancer
Susceptibility Testing Panel 		Illumina
NovaSeq X Plus 		ATM, BRCA1, BRCA2, CDKN2A,
PALB2, MSH2, MSH6, MLH1,
PMS2 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Identifies hereditary risk factors for pancreatic cancer. Risk stratification, early surveillance, family counselling.
11
 Inherited Gastrointestinal
Oncology Panel 		Illumina
NovaSeq X Plus 		ATM, APC, MSH2, MLH1,
CHEK2, POLE, POLD1,
TP53, CDH1 and other
GI cancer susceptibility genes 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects variants associated with GI cancers (colorectal, gastric, pancreatic and hepatobiliary). Risk prediction, screening & preventive strategies for GI cancers.
12
 Inherited Wilms
Tumor Panel 		Illumina
NovaSeq X Plus 		ELN, BCL11B, BRCA2, BARD1,
REST, TP53, TRIM37, WT1,
TRIP13, RAD51D, NBN,
RNASEL, PIK3CA, PAX6 		3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Identifies genetic variants predisposing to Wilms tumor. Risk assessment, early intervention, family screening.
13
 Neurofibromatosis
Panel 		Illumina
NovaSeq X Plus 		NF1 & NF2 3 week Peripheral blood
in EDTA tubes
(K2 EDTA Tube) 		Detects pathogenic variants associated with NF1 & NF2 disorders. Diagnosis, prognosis & management of NF1/NF2.

IMPACT OF NGS PANELS

  • Early & Accurate Genetic Diagnosis
  • Enables Detection of Genetic Variants
  • Personalized Treatment
  • Identifies Actionable Mutations
  • Risk Prediction & Prevention
  • Helps in guiding disease management

USE OF NGS PANELS

  • Rare Disease Diagnosis
  • Oncology Applications
  • Carrier & Family Screening
  • Hereditary Cancer Testing
  • Personalized Medicine
  • Pharmacogenomics

WHY CHOOSE NGS?

  • Comprehensive Genomic Coverage
  • High Sensitivity
  • Clinically Actionable
  • Cost Effective
  • One Test, Multiple Targets
  • Advanced Molecular Insights

SAMPLE TYPES

Peripheral Blood

FFPE / Tissue Block
Fresh / Frozen Tissue
Other Body Fluids

As per test requirement

TECHNOLOGY & QUALITY

Illumina NovaSeq X
Nanopore Sequencing
High Accuracy & Depth
Clinical Interpretation
ISO / Quality Aligned

QUALITY YOU CAN TRUST

ISO Compliant
Expert Molecular Interpretation
High Analytical Quality
Secure Data & Confidentiality

REPORTING EXCELLENCE

Clinical Interpretation
Actionable Insights
Variant Classification
Genetic Counselling Support
Clear & Interpretable Reports

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