Quality and accreditations
A laboratory with 48 years of history, current ISO 9001:2015, variant classification under ACMG/AMP 2015 guidelines, and pipelines validated against GIAB references.
Certifications and standards
ISO 9001:2015
Quality management system audited annually. Applies to sample reception, extraction, sequencing, analysis and report issue.
ACMG/AMP 2015
Variant classification into 5 classes (pathogenic, likely pathogenic, VUS, likely benign, benign) according to ACMG/AMP criteria.
GDPR
Full compliance with the General Data Protection Regulation. Anonymisation from receipt. Servers located in the EU.
GATK Best Practices pipelines
BWA-MEM + GATK4 (HaplotypeCaller, VQSR/CNN). Complemented with DeepVariant for cross-validation.
GIAB benchmarking
Pipelines validated against Genome in a Bottle samples (HG001–HG005). F1-score > 0.995 for SNVs in clinical regions.
Guaranteed minimum coverage
≥20x in 99 % of the target clinical region. Any region below that is explicitly reported.
Process controls
Reception and sample QC
Chain-of-custody check, tube integrity control and DNA concentration measurement with Qubit + TapeStation.
Library preparation
Validated protocols with positive/negative controls per batch. Individual per-sample traceability in LIMS.
Sequencing
Q30 > 90 % on all lanes. Cross-contamination and sample-swap controls using genetic fingerprinting.
Analysis and review
Automated pipeline plus manual review by a clinical geneticist of every candidate finding. Double signature on diagnostic reports.
Need quality documentation?
For audits, agreements or competitive projects, we provide the certificates and validations that accredit our processes.