ExomeXtra® is CeGaT’s advanced exome-based service for complex genetic questions, especially in rare disease diagnostics and research. It combines the depth of whole exome sequencing with selected genome-wide information and genome-wide detection of deletions and duplications at array-CGH resolution. This integrated approach is designed to close diagnostic gaps that standard exome sequencing or standard genome sequencing may leave open. Depending on the case, Trio ExomeXtra®, Single ExomeXtra®, ExomeFocus® or Prenatal ExomeXtra® may be suitable options. Additional services such as ACMG gene analysis, HLA typing, pharmacogenetics and VUS reassessment can further support clinically relevant interpretation in one structured workflow and report.

CeGaT’s Prenatal Diagnostics portfolio supports genetic questions before birth with both invasive and non-invasive testing options. Depending on the indication, physicians can request Prenatal ExomeXtra®, prenatal array CGH, prenatal single gene and segregation analysis, the Harmony® Test or Rhesus-NIPT. These services can help clarify suspicious ultrasound findings, familial hereditary diseases, chromosomal abnormalities or fetal Rh factor status. CeGaT uses modern sequencing technologies, microarrays and MLPA examinations where appropriate. The aim is to provide reliable genetic information during pregnancy, supporting physicians and families with medically relevant results while choosing the most suitable test according to the clinical question and sample type.

CeGaT’s Genetic Tumor Diagnostics portfolio supports cancer care by providing molecular information for diagnosis, therapy selection and monitoring. Services cover hereditary tumor syndromes as well as somatic tumor analyses, including CancerPrecision®, CancerEssential®, CancerFusionRx®, CancerIFP, CancerNeo®, CancerDetect®, CancerMRD and CancerAdvice®. Depending on the clinical question and available sample material, analyses can help detect cancer predispositions, identify disease mechanisms, evaluate planned therapies, detect fusion transcripts, analyse the tumor microenvironment, identify neoantigens or monitor minimal residual disease and recurrence. The goal is to provide physicians with actionable molecular insights that support precise, timely and patient-specific treatment decisions throughout the patient journey and disease course.

CeGaT supports clinical studies with NGS-based services across the project workflow, from planning to final data delivery. The service is designed for studies that need rapid, comprehensive and accurate molecular analysis to investigate disease mechanisms, therapy response, resistance, patient stratification or biomarkers. Applications may include translational oncology, immunology and broader sequencing-based study questions. CeGaT combines accredited laboratory workflows, regulatory awareness, in-house processing, LIMS-supported sample tracking and dedicated scientific support through a single point of contact. Study-specific support can include sequencing strategy, experimental design, lab manuals, sampling kits, logistics, long-term storage and tailored data analysis output. Processing according to GCLP standards is possible.

CeGaT offers high-quality NGS Sequencing Services for research institutions, pharmaceutical companies and clinical research projects worldwide. The portfolio includes genome sequencing, ExomeXtra® sequencing, exome sequencing, transcriptome sequencing, panel sequencing, ready-to-load sequencing, single-cell RNA sequencing, small RNA sequencing and spatial transcriptome sequencing. These services address research questions from comprehensive genetic information and relevant genome regions to gene expression, cellular diversity, small RNA molecules and spatially resolved transcriptomics. CeGaT’s team supports customers in choosing the most suitable product, library preparation, sequencing depth and bioinformatic analysis. Projects are supervised by dedicated scientific project managers and delivered with high-quality data and tailored bioinformatic analysis support.