SOPHiA DDM™ for
Pharmacogenomics
Specialized analytics for PGx testing
Our pharmacogenomics applications are developed in collaboration with experts in the field to provide the results that you need from your PGx testing
Enhance your pharmacogenomics testing with advanced analytics and dedicated features
Quickly and accurately discover PGx-associated variants with the SOPHiA DDM™ Platform.
Accurate CNV detection
The SOPHiA DDM™ Platform supports the accurate detection of Copy Number Variations (CNVs) at exon-level resolution alongside Single Nucleotide Variants (SNVs) and Indels in a single experiment, facilitating a fast and cost-effective workflow for PGx testing.
CYP2D6 analytical module
The bespoke SOPHiA DDM™ CYP2D6 analytical module calls CNVs, SNVs, and Indels in CYP2D6, and reports genotype information and star alleles to enable effective pharmacogenomics testing.
SNV export file with genotype status
Alongside the full variant table and CNV report, an SNV export file with genotyping information is provided as an output file for PGx testing. Genotype, coverage depth, and variant fraction are provided for predefined SNVs to ensure rapid interpretation of your results.
Applications for every workflow
Our pharmacogenomics testing applications leverage the analytical capabilities of the SOPHiA DDM™ Platform for accurate and streamlined variant detection and assessment.
Pharmacogenomics Community Panel
Accelerate your analysis of PGx-associated variants with a panel predesigned, developed, and tested by genomic experts. Our targeted, capture-based NGS Community Panel minimizes set-up challenges with the flexibility to add or remove genes to meet your unique requirements.
Custom Pipelines
Design and adopt an analytical solution or capture-based target enrichment kit that accurately analyzes PGx genes relevant to your laboratory. Benefit from full consulting and set-up assistance for a fast and worry-free transition to routine pharmacogenomics analysis.
Do you need support with next-generation sequencing
for your PGx testing?
If your lab does not have the resources for in-house sequencing, SOPHiA DDM™️ Integrated Access Mode provides access to a global network of sequencing labs. Samples are shipped to our partners for sequencing, with the results uploaded to the SOPHiA DDM™️ Platform for you to interpret, ensuring that you fully own your data.
41 genes are targeted by our SOPHiA DDM™️ Pharmacogenomics Community Panel
ABCB1, ABCC2, ABCC4, ABCG2, ACE, ADRB1, ADRB2, BCHE, CDA, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, G6PD, HTR2A, ITPA, MTHFR, NAT2, NR1I2, NR1I3, NUDT15, OPRM1, P2RY12, POR, RYR1, SLC22A1, SLCO1B1, TPMT, TYMS, UGT1A1, UGT1A4, UGT2B7, VKORC1
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