AGTC Genomics

Clinical Research Sequencing

We offers a comprehensive set of solutions for clinical trial sequencing. From choosing and validating the appropriate technology and study design, through sample receipt and processing, to data generation and analysis, we work together every step of the way to ensure that data produced provide the pharmacogenomic insight to drive therapeutic efficacy.

Overview

Today’s advancements in clinical next-generation sequencing (NGS) have a profound impact on healthcare. NGS is not just giving clinicians a deeper understanding of disease, it is also unlocking previously unknown genetic anomalies that lead to better diagnoses and treatments of disease.

Our clinical-grade NGS laboratory provides physicians and physician-researchers with high quality molecular tests that is ideal for applications spanning many areas of clinical research including: clinical utility studies, rare and common disease research, translational research, identifying novel biomarkers, and clinical trials.

What’s Included

  • Sample Receipt and Initial QC
  • Library Construction and QC
  • Sequencing and Data Delivery
  • Bioinformatics Analysis

Data Deliverable

  • Data accessed via secure online digital transfer
  • Alignment with reference genome
  • Germline SNP/InDel/SV/CNV detection
  • Somatic SNP/InDel/SV/CNV detection (for tumor-normal paired samples)
  • Germline Variant Call Format (VCF)

Specimen Requirements

We accept whole blood, buccal swab, saliva, and extracted DNA (from whole blood, Buccal swabs, or saliva) for germline WES and WGS.

Specimen Type Amount & Quality Collection Tubes
Whole Blood 3 to 5 mL (Minimum ≥ 2 mL) EDTA (Purple-top) tube or ACD (yellow-top) tube
Buccal Swab ≥ 2 tubes ORAcollect-Dx OCD-100/100A (DNA Genotek)
Saliva ≥ 2 ml SuperDNA kit (AGTC Genomics)
Oragene-DNA (OG-600) (DNA Genotek)
gDNA ≥ 1 μg of purified DNA
Volume ≥ 20μL
Concentration ≥ 20ng/μL
Eppendorf Tubes