SNPXplex®: Independent Sample Identity Verification for NGS
Sample identity verification
SNPXplex® — Independent Sample Identity Verification for NGS
SNPXplex® is an identity-verification kit for laboratories performing whole-exome sequencing (WES), whole-genome sequencing (WGS), and hereditary disease panels. It generates a genetic profile independently of the primary NGS analysis, allowing laboratories to compare genotypes and investigate potential sample mix-ups.
The assay combines simultaneous genotyping of 15 single nucleotide polymorphisms (SNPs) by allele-specific fluorescent multiplex PCR with sex determination. Developed from technology patented by Assistance Publique – Hôpitaux de Paris (AP-HP) and produced by BioXtal, SNPXplex® has been used since 2017. Current distributor information reports that more than 100,000 NGS sequencing results have been secured using this approach.
Independent 15-SNP genotyping
A single, ready-to-use reagent amplifies 15 SNP markers by allele-specific fluorescent multiplex PCR, together with a sex-determination marker. Capillary analysis provides a profile for comparison with the corresponding NGS genotypes.
This is a sample identity check; it does not replace the analysis of disease-associated variants.
WES, WGS and targeted panels
SNPXplex® can be used alongside exome sequencing, whole-genome sequencing and targeted panels, including capture-based and amplicon-based workflows.
For hereditary disease testing, laboratories can use the independent profile to verify concordance with sequencing data, provided the relevant SNP loci are covered and callable in the NGS assay.
Workflow and instrumentation
Combine patient DNA with SNPXplex®, perform multiplex PCR, then analyze the products on a capillary sequencer with 6-FAM™ detection. A thermal cycler is required.
The supplier brochure reports 2 h 45 min for PCR and less than 1 h for capillary separation, followed by bioinformatic analysis.
Genotype comparison
Compare SNPXplex® and NGS genotypes for each patient and examine the sample series for shared profiles.
The supplier reports a probability of two patients sharing a profile within a series of 96 samples of <5% across all origins combined and <0.2% for patients of European origin. These are shared-profile probabilities, not assay error rates.
Sample compatibility and storage
The supplier brochure reports validation with cell culture, blood, plasma and FFPE tissue. Store the reagent at −20°C; it may be kept at room temperature for up to 8 days, protected from light.
Available kit formats
Review SNPXplex® for your sequencing workflow
Our technical team can assist with kit selection and access to technical documentation. Consult the applicable instructions for use for DNA input, instrument settings and reagent handling.