Genetic Analysis

Molecular Diagnostics

MOMA offers molecular diagnostic services to support diagnosis in hereditary disease.

Our analyses repertoire includes mutation screening in different cancer types, sudden cardiac death and cardiac disease, endocrine and metabolic disease.

MOMA Hereditary Cancer Panel v3 (targeted NGS)

MOMA Heart Panel v3 (targeted NGS)

Thoracic aorta dilatation panel v3 (targeted NGS)

MOMA Exome Endocrinology v2 (NGS)

List of genetic analyses (NGS subpanels and single genes by syndrome)

 

Detailed information about testing

 Turnaround times

Our turnaround times are 10 business days for screening, 10 weeks for cancer panels (exception: 8 weeks for BRCA panel) and 3 months for heart panels, thoracic aorta dilation and exome, endocrinology. 
There can occur some delay during holiday seasons.

Technical details

The NGS analysis comprises coding exons of the listed genes plus 10 bp of the flanking introns with a minimum coverage of 30x.

CNV analysis

All genes included in the ordered gene panel are analyzed for copy number variations (CNV).
We are using the XHMM and Delly software for in-silico analysis of NGS data.

CNV findings are confirmed by the MLPA method, if possible.

Exceptions:
For the genes BRCA1, BRCA2, MSH2, MLH1 and NF1 we apply both methods routinely.
Genes located on X- or Y-chromosome are not included in CNV analysis.

Please, contact our academic staff for further information. 

Internationally Accredited Quality

The molecular diagnostic service was established in 1996 and is provided to Region Midt (central Denmark) and other regions. Some genetic tests are provided on a national basis.

The department is accredited by DANAK/ILAC by the international laboratory standard DS/EN ISO 15189:2008 for medical examination - genetics. The laboratory is accredited for a flexible scope regarding systems, components and, performance of the method. The laboratoy has demonstrated relevance and reliability of the accredited examinations. 

MOMA participates in the external quality assessment programme of EMQN (European Molecular Genetics Quality Networks) for sequencing and schemes for single analyses as HNPCC. 

 

How to order a genetic test

Genetic tests offered by MOMA can only be ordered by clinicians at clinical departments, including clinical genetic departments.

We only report results to the referring clinician. Genetic tests should always be accompanied by genetic counselling.
To request a genetic analysis, please use one of the request forms.

If you have access to the Midt-EPJ system (electronic patient journal) in Region Midtjylland you can order the analyses in the system, and send a completed request form with your samples.

First time requests from outside Denmark will need to include the completed the Payment Agreement Form.

 

Please, contact our academic staff for further information.