At MOMA, we provide a wide range of advanced methods for clinical diagnostics through next-generation sequencing (NGS) analysis. Our methods include:
- Gene panels (TWIST capture)
- Whole exome sequencing (WES, based on TWIST capture)
- Whole genome sequencing (WGS, Illumina DNA PCR free)
- Total RNA sequencing
Before delivering data to our clients, we perform extensive quality control to ensure the accuracy and reliability of our results.
Variant calling, classification and clinical reporting
Our variant calling services are comprehensive and cover a range of genetic variations, including single nucleotide variants (SNVs), insertions and deletions (InDels), copy number variations (CNVs) and structural variations (SVs). In addition, we provide support for delivering quality control metrics for specific in-silico panels, to aid external users.
To provide our clients with the most relevant information, we perform final data analyses in the form of variant filtering and classification, which culminate in comprehensive clinical reports. With our advanced technology and expertise, we offer reliable and accurate results for clinical diagnosis and genetic testing.
Comprehensive Genetic Testing for Hereditary Diseases
Our gene panels provide support for diagnosis of a wide range of hereditary diseases.
We perform clinical interpretation using gene panels, WES, or WGS data to detect disease-causing, pathogenic variants and to identify potential actionable variants for which specific medical treatment may be beneficial.
Our genetic testing is designed to identify a range of hereditary diseases, including:
- Hereditary and somatic cancer
- Cardiac diseases
- Endocrine and metabolic diseases
By pinpointing genetic variants, we can provide patients with accurate diagnoses and treatment options based on their unique genetic makeup. At MOMA, we strive to provide comprehensive genetic testing services that enable clinicians to make informed decisions and improve patient outcomes.
Advancing Genetic Testing and Variant Interpretation at MOMA
We are constantly exploring new tools and technologies to improve the accuracy and reliability of our genetic testing and clinical interpretation. We are currently investigating several methods to support the analysis of difficult genetic regions and variants of unknown significance (VUS).
One of our approaches involves RNA sequencing, which allows us to analyze both structural variants and gene expression patterns. We also use Long Read Sequencing with Nanopore technology on the Promethion platform, which enables us to sequence DNA in a single read and identify large structural variations. Additionally, we conduct functional analysis of splicing variants to gain further insights into their potential impact on disease.
Through our ongoing research and development efforts, we aim to provide our clients with the most advanced and accurate genetic testing and interpretation services possible. At MOMA, we are committed to advancing the field of genetics and improving patient outcomes through cutting-edge technology and expertise.
Contact and information for clinicians
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.
Internationally Accredited Quality
The department is accredited by DANAK/ILAC by the international laboratory standard DS/EN ISO 15189:2013 for medical examination - genetics.
A complete method list of accredited analyses can be found at DANAK's website.
MOMA participates in several external quality assessment schemes: European Molecular Genetics Quality Networks (EMQN), Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and Genomic Quality Assessment (GenQA).
Christine Gaasdal Kassentoft
Clinical academic, MSc