Technology at TruDiagnostic:
Genomics

We have 3 main options for genomic investigations, along with options to customize your data processing and add our bioinformatics analytics services. 

For Genomics testing, we can work with blood or buccal swabs, with a 14 working-day turnaround time. 

GSAv3 + Custom

The Infinium Global Screening Array-24 Beadchip is a next-generation genotyping array from illumina.  

It combines multi-ethnic genome-wide content, curated clinical research variants, and quality control markers for precision medical research. 

Put this technology to work in your next research project for a scalable, cost-effective solution.

The GSAv3 Array is an economical next-generation genotyping array that enables population-scale genetics, translational research, variant screening studies, and precision medicine research by combining highly optimized multiethnic genome-wide content, curated clinical research variants, and QC markers.

Examine around 650,000 fixed markers, plus 1,000 custom markers.  Include variants with established disease associations, relevant pharmacogenomics markers, and curated exonic content based on ClinVar, NHGRI, PharmGKB, and ExAC databases. 

GDA + PGx

The Infinium Global Diversity Array with Enhanced PGx supports pharmacogenomic (PGx) research in diverse populations. It is a powerful tool for polygenic risk score development, ancestry determination, and genetic disease research.
The GDA with Enhanced PGx boasts the largest genome-wide backbone of any array on the market and the most comprehensive set of PGx variants. It features:

- Over 44,000 genome-wide PGx markers spanning more than 2000 pharmacogenomic targets.
- >6000 variants from globally recognized PGx databases, including PharmGKB1, CPIC2, PharmVar3, and ClinVar4
- 100% coverage of priority level A and B CPIC genes2
- Accessibility of hard-to-discern PGx genes like CYP2D6, CYP2B6 and TPMT
- Over 13,000 more markers than existing Global Diversity Array
- Automated, scalable workflow with 3-day turnaround time
- A targeted gene amplification (TGA) step for accurate genotyping of critical genes like CYP2D6, CYP2B6, and TPMT
- Accurate CNV calling

CNV Analysis

We offer an automated, scalable workflow with a 2-week turnaround time.  

Enhanced CNV Analysis of GSTT1, GSTM1 and UGT2B17 is done with BioDiscovery’s nxClinical software using a hidden Markov model based on the NxClinical SNP-FASST2 algorithm to determine high statistical significance (P < 5E-7).

Ask about custom CNV analysis for your projects with this platform.