ABOUT

At MOMA, we provide advanced molecular diagnostics using a broad range of validated laboratory and sequencing technologies.

Our services include:

• Gene panels (TWIST capture)
• Whole exome sequencing (WES)
• Whole genome sequencing (WGS, Illumina DNA PCR-free)
• Total RNA sequencing
• Long-read sequencing (Nanopore)
• Sanger sequencing
• MLPA (copy number analysis)
• Droplet digital PCR (ddPCR)

These methods enable detection of a wide spectrum of genetic variation, including single nucleotide variants, insertions/deletions, copy number changes, structural variants, and RNA-level effects such as altered expression and splicing. 

All analyses undergo rigorous quality control and standardized data processing to ensure high accuracy and reliability before results are delivered.

Variant Analysis and Clinical Reporting

We provide comprehensive detection and interpretation of genetic variants, including: 

• Single nucleotide variants (SNVs)
• Insertions and deletions (InDels)
• Copy number variations (CNVs)
• Structural variants (SVs)

Variants are identified through validated bioinformatic pipelines and subsequently filtered and classified according to established clinical guidelines. This ensures that clinically relevant findings are prioritized.

Results are delivered in structured clinical reports designed to support diagnostic decision-making and patient management. Quality control metrics and panel-specific data can also be provided for external users.

Genetic Testing for Hereditary Diseases

Our analyses support diagnosis across a broad range of hereditary conditions. Using gene panels, WES, or WGS, we identify pathogenic and potentially actionable variants relevant to the patient’s phenotype.

We offer testing for:

• Hereditary cancer
• Cardiovasculardiseases
• Endocrineand metabolic disorders
• Hematological conditions, including thrombocytopenia

By identifying disease-associated variants, we enable precise diagnosis andsupport personalized clinical management.

‍Somatic Analysis and Precision Oncology

MOMA performs somatic analyses, where genomic data are integrated into clinical cancer care.

Analyses are typically conducted in a tumor–normal setup using WGS and RNA sequencing, and may include cfDNA-based approaches. The workflow ensures standardized handling of data, traceability, and close integration between laboratory processing, bioinformatics, and clinical interpretation. 

Somatic analyses include:

• Detection of SNVs and InDels
• Copy numberalterations (CNVs)
• Structural variants (SVs)
• Tumour mutational burden (TMB)
• Microsatellite instability (MSI)
• Tumour purity estimation

Results are discussed in multidisciplinary tumor boards (MDT) and contribute directly to treatment decisions, including identification of actionable variants and eligibility for targeted therapies or clinical trials.

Advanced Methods and Ongoing Development

We continuously develop and implement new approaches to improve detection and interpretation of complex variants and challenging genomic regions. 

Our advanced methods include:

• RNA sequencing for detection of aberrant expression, splicing, and monoallelic expression (DROP pipeline)
• Long-read sequencing (Nanopore, PromethION) for structural variants, phasing, and complex genomic regions
• Functional splice assays for evaluating the impact of variants on RNA splicing 

These approaches complement standard DNA-based analyses and increase diagnostic yield, particularly in cases where conventional methods are inconclusive.

Contact and information for clinicians

E-mail: auh.moma.diagnostik@rm.dk

Please contact our clinical academic staff with any questions about variant interpretation, included genes, sensitivity and other information.

Please see our pages for requesters at Aarhus University Hospital for details of our genetic analyses and how to order them.