Welcome to our new website! Find and order your test(s) of interest

Do you have feedback or questions?

What could we do better? What should we add next? What are we doing well? Your feedback helps us improve.

Please send your feedback to: gen@radboudumc.nl

(Rapid) Exome sequencing View the content of our exome panels

Below you will find all our exome panels, the rapid exomes are a choice option at almost each of the panels. By clicking on the panel of interest you will find all details of this test (e.g. TAT, prices and content of the panel).

An overview of all genes that are analyzed by an exome sequencing service, and in which panel the gene of interest is located can be found via Genelists.

• ALS, amyotrophic lateral sclerosis
• Aritmogene cardiomyopathy
• Arrythmia and cardiac conduction disorders
• Brugada syndrome
• Ciliopathies
• Comprehensive preconception carrier test
• Congenital heartdisease
• Craniofacial anomalies panel with genome wide CNV analysis
• Dilated cardiomyopathy
• Disorders/differences of sex development (DSD) / primary adrenal insufficiency
• Dyskeratosis congenita and aplastic anemia
• Epilepsy
• Fetal akinesia
• Hearing impairment
• Heart disorders
• Hemostatic / Thrombotic disorders
• Hereditary cancer
• Hereditary neurological pain disorders
• Hypertrophic cardiomyopathy
• Hypogonadotropic hypogonadism (Kallmann)
• Inherited bone marrow failure and/or predisposition to hematological malignancies
• Intellectual disability panel with genome wide CNV analysis
• Iron disorders
• Long QT syndrome
• Liver disorders
• Lymphatic anomalies panel with genome wide CNV analysis
• Male infertility
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders
• Mitochondrial disorders
• Movement disorders
• Muscle disorders
• Neuropathies
• Noonan / RASopathy
• Orofacial clefting panel with genome wide CNV analysis
• Painful peripheral neuropathies
• Parkinson disease
• Premature ovarian insufficiency
• Primary immunodeficiencies
• Renal disorders
• Severe combined immunodeficiency (SCID)
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders
• Sonic hedgehog medulloblastoma
• Tall stature panel with genome wide CNV analysis
• Vision disorders

Previous versions of our WES panels
These exome panels regularly receive an update, in which genes are added (or removed from) the gene panel. Consult previous versions of a gene panel.

Exome sequencing in general
If you would like to know more about exome sequencing in general please visit our Exome sequencing diagnostics page.

Policy incidental findings
To view our policy on disclosing incidental findings click here.

Request- and informed consent forms

Below you can find:

• A blanc requestform Radboudumc; which you can use in case you do not have the ability to perform your Radboudumc request online
• A blanc requestform MaastrichtUMC+; which you can use in case you do not have the ability to perform your MaastrichtUMC+ request online
• An informed consent form; which you can use in case you request a diagnostic exome sequencing test. This form is for your own use and documentation, and is not required to include this with the request and sample

Turnaround times, materials and prices

Click here to view our turnaround times, preferred materials and prices of our services.

When ordering a specific test, you will also be informed about the turnaround time, which materials are required and the price of the analysis.

Please visit our Genome Diagnostics page to view more detailed instructions on materials and shipping conditions.

About us

About us:

The section genome diagnostics of the department of Genetics, and the translational metabolic laboratory of the department of laboratory medicine (both of the Radboudumc in Nijmegen) started in 2013, an intensive and far-reaching cooperation with the department of Clinical Genetics of the Maastricht UMC+.

Together¹ we are able to offer a complete package of genetic and enzyme-/biochemical tests for both national and international physicians. We offer diagnostics for a large number of acuired, hereditary and/or congenital disorders. New tests are implemented in diagnostics after an extensive validation in accordance with current quality standards.

We have complementary expertise in both centers and we can jointly develop and implement the latest technologies. All genetic and enzyme-/biochemical tests of these two centers are offered in one and the same (this) ordering system, regardless of where the test is performed.

Our team:

Our team consists of passionate and experienced people. For more information about our team members please see the following links: Radboudumc, Maastricht UMC+.

^1: Tests performed by the lab of Maastricht UMC+ can be regonized by the superscript 1 in the name/title of the test (e.g. FLNC - cardiomyopathie¹). 

Quality

The Laboratory of Genome Diagnostics has state-of-the-art techniques and equipment. In the Competency Statement is described how the laboratory guarantees its quality. In this competency statement the scope and operation list of the laboratory are included.

To guarantee the quality, Genome Diagnostics is accredited for ISO 15189_2012 (accreditation number M100) and participates in the relevant quality assessment programs (since 2001) of the EMQN, UKNEQAS, CEQAS and CF Network (see certificates for past two years). Genome Diagnostics is registered on the website of Orphanet.

Interpretation and nomenclature

Click here to view our policy regarding interpretation and nomenclature of genetic variants.

Contact

Radboudumc, Nijmegen

Department of Genetics, section Genome Diagnostics 
Opening hours: mon-fri 08:30-16:30
Tel: +31(0)24 36 13799
E-mail: info@gdnm.nl

Maastricht University Medical Centre

Laboratory Clinical Genetics
Opening hours: mon-fri 08:30-17:00
Tel: +31(0)43 38 71345
Email: cmo.klin.genetica@mumc.nl

FAQ's

Will the request arrive digitally in the lab?

Not yet. With this system you can fill out the request form online and print the filled out request form in order to send it together with the sample to our lab. The request will NOT arrive digitally in our lab. The receival of the sample together with the request form is the final order to start the investigation.

How will the results and invoice be sent?

The final report and invoice will be sent out as soon as all the results are obtained and interpreted.

Do you accept S2/E112 forms?

We do not accept S2/E112 forms. We offer genetic testing rather than hospital treatment, therefore we are not obligated to accept these forms. As we perform more genetic tests than covered by our contratcs with the Dutch health insurance companies, our costs for genetic services for people from abroad are not compensated by the health insurance companies. Instead of an S2/E112 form we send an invoice together with the final results to the referring physician (or to another billing adress, if indicated clearly).

How can I pay the invoice?

Usually, on the invoice, the referring physician will be stated. In case another billing address should be used, please indicate this clearly. The following methods of payment are accepted; wire transfer, checks or PayPal. When useing PayPal, please use info@gdnm.nl as email address.

In case the invoice will be paid by the patient directly, we will generate a pre-payment invoice that has to be paid before we start with the analysis.The pre-payment invoice will be generated at our administration and send to the patient via e-mail. 

What are the consequences when a test is cancelled by the referring physician (or patient)?

It is possible to cancel a test, BUT we will have to charge the test completely. Only if a test has not been initiated we can cancel it without charges.

How long will exome data be stored?

The BAM-files will be stored for a minimum of one year and the VCF-files are stored for at least five years. The VCF-files (the unannotated files) can be obtained upon request. A document of permission of the patient needs to be provided. For the retreival of raw data an additional charge will apply (please contact us for more details).

Do you offer Whole Genome Sequencing?

We do not offer diagnostic genome sequencing yet. Instead, we do offer diagnostic exome sequencing. For more information please take a look at our exome sequencing panels.

Regarding exome sequencing, do you report incidental findings?

We generated gene panels with known disease-causing genes for each condition tested by exome sequencing. In case no causative mutation has been found in the chosen gene-panel we can proceed with an open exome analysis. One of the main issues in case of an open exome analysis involves the potential identification of unsolicited, incidental or secondary findings - genetic variants that are medically relevant but not for the disease for which the patient visited the clinic [Johnston JJ et al. Am J Hum Genet. 2012]. An example of this could be a gene alteration associated with an increased risk of cancer or cardiovascular disease in the counselee. This could have important consequences for the counselee and/or other family members. International discussion on the reporting of unsolicited findings keeps ongoing. The American College of Medical Genetics, among others, recommends that a limited number of medically relevant variants should be specifically sought and reported in each patient undergoing exome or genome sequencing. We do not follow the ACMG guideline regarding the active seeking of mutations in specific genes, but follow the recommendations by the European Society of Human Genetics [van El et al. Eur J Hum Genet. 2013], and the guidelines for diagnostic next generation sequencing as published by Eurogentest (www.eurogentest.org). This means that secondary findings will be assessed by an independent expert panel which determine the clinical relevance. In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. Secondary findings are described in a separate report issued to the referring medical doctor. In all situations, the counselee will be informed of the results of exome sequencing by their physician. To view our policy on disclosing incidental findings click here.

Do you offer Non Invasive Prenatal Testing (NIPT)?

At present, we do not offer Non Invasive Prenatal Testing (NIPT) for foreign patients. We are only allowed (due to a Dutch law) to offer this test to our national patients under strict regulations.