Next-generation sequencing (NGS) is a cutting-edge molecular biology technique that examines patient DNA, revealing crucial genetic variations that can lead to severe medical conditions. By identifying disease-causing variants, NGS facilitates diagnosis, prognosis determination, and the selection of optimal treatments. With its ability to analyze thousands of relevant genes quickly, NGS detects different types of variants, enabling the discovery of known and novel disease-associated genetic changes. This transformative approach holds tremendous potential for personalized medicine and advancing our understanding of genetic factors in diseases.

We believe in precision and maintaining highest quality standards. We process samples in laboratories that use the highest possible quality generated in a College of American Pathologists (CAP), Clinical Laboratory Improvement Amendments (CLIA) Certified Lab or NABL labs.

Minimum False Positive: Our pipeline utilizes advanced algorithms for quality control, alignment, and variant calling to minimize false positive results. By filtering out common variants based on population allele frequencies and predicting functional consequences using multiple in silico tools, we enhance the accuracy of identifying potentially pathogenic variants.

Rigorous Validation: To enhance variant interpretation, our results undergo rigorous validation. We compare them against a comprehensive collection of disease-related mutation databases, including in-house curated datasets and publicly available or licensed commercial sources. This meticulous validation process further strengthens the reliability of our findings.

• High-quality analysis
• On average, 99.4% of base pairs in the target region are covered at a sequencing depth of at least 20x
• Highly uniform sequencing depth across all target genes
• Single nucleotide variants (SNV): Sens 99.10% and Spec >99.00%
• Insertions, deletions and indels: 1-10 bps: Sens 95.03% and Spec >99.00%; 1-50 bps: Sens 98.06% and Spec >98.00%