Human Sample ID Kit and Human Sample ID mini Kit

NGS sequencing assay designed for independent sample identity confirmation in WES, WGS, and gene panel workflows, providing an additional layer of traceability and integrity control from sample receipt to final analysis. It generates a unique genetic fingerprint with a simple workflow and an automated report to facilitate data interpretation.

Detailed Description

Operating Principle

The sample tracking kits are designed to create a unique genetic tag for each sample to facilitate identity verification. The protocol is based on a single closed-tube PCR step, which simultaneously amplifies the targets and incorporates sample-specific dual indices. Following pooling and a simple bead cleanup, the libraries are ready for sequencing, and the analysis is completed using associated software that generates a standardized report.

Clinical Applications

Its main interest in the clinical genetics laboratory lies in sample traceability and the prevention of identification errors in complex WES, WGS, and targeted panel workflows. These processes involve multiple chain-of-custody transfers, several analytical steps, and large volumes of data, which can compromise sample integrity throughout the process.

In this context, the kit provides an independent method to confirm that the sequenced sample actually corresponds to the expected patient. Sample mix-ups or swaps can occur in up to 3% of cases, reinforcing the utility of this type of control in laboratories needing to enhance the security of the analytical process.

Benefits

The product is designed to easily integrate into established workflows. The described advantages include ease of integration into WES and WGS, coverage uniformity, low DNA input requirement, and the availability of analysis software with standardized reporting.

It also stands out for its compatibility with high-quality DNA, FFPE samples, and cfDNA, which broadens its utility in laboratories handling different sample types within the same routine.

Intended Audience / User

Aimed at clinical genetics, genomics, molecular biology, and advanced diagnostic laboratories that need to strengthen traceability, identity verification, and sample quality control in next-generation sequencing workflows.

It is particularly relevant in environments involving multiple pre-analytical and analytical steps, or where samples of different origins and quality are processed simultaneously.

Key Features

Independent confirmation of sample identity for WES, WGS, and gene panel workflows.
Two assay types available depending on the needs:
Human Sample ID kit: based on 43 polymorphic SNPs and 6 sex markers, suitable for WES and WGS workflows. Human Sample ID mini kit: based on 12 polymorphic SNPs and 1 sex marker, suitable for gene panels.
Simple workflow with a single closed-tube PCR and libraries ready for sequencing after a simple cleanup.
Compatible with diverse starting materials: high-quality genomic DNA, FFPE, and cfDNA.
Low DNA input and short workflow: 1–20 ng, 3 hours total time, and only 20 min hands-on time.
High discrimination power, suitable for differentiating samples and supporting the integrity of the analytical process.
Fully compatible with Illumina sequencing platforms.
Includes analysis software capable of generating a standardized results report.

Ordering Information

The kit comes in a 96-reaction format and two solutions are available, complemented by different sets of unique dual indices:

Human Sample ID Kits
PXL-SID-001 Human Sample ID Kit (96 rxn)
PXL-SID-002 Human Sample ID mini Kit (96 rxn)
Index Sets

Note: The different index kits are fully compatible with both solutions (ID Kit and ID mini Kit).

PXL-IND-003 to PXL-IND-009 Unique dual index sets (PXL-IND-003, PXL-IND-004, PXL-IND-005, PXL-IND-008, and PXL-IND-009)

Area:

Exomes, Genomes, Hereditary cancer, Sample tracking, Sample tracking

Brand:

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