Request system Genome Diagnostics Welcome!

Here you will find the genetic tests offered by these two centers. Search your test, fill out the form online, print out and send with the material. In addition, you can create an account via the gray right bar where you can also save your favorite tests to you can quickly find them.

Request system Genome Diagnostics Welcome!

Step 1 - Account / Log in
Create an account or log in. With the use of an account your own information will be saved during the ordering proces. In addition you can save favorite tests on your account.
Step 2 - Search
Search for the condition, the gene or service (exome or Array) in the box 'search here’. Alternatively you can search for your test of interest by clicking the blocks on the right side ‘tests per condition’ or ‘tests per service’.  
Step 3 - Test details
View the test details (e.g. the turnaround time, method , preferred material etc.) or add the test directly to the shopping cart. Before the test can be added to the shopping cart a choice needs to be made between e.g. ‘analysis of the complete test’ or ‘targeted analysis of a familial mutation’.
Step 4 – Shopping cart
Another test can be added to the shopping cart or you can continue with the order.
Step 5 – Personal details
Patient details, clinical information and your own information (requesting physician) can be filled out online.
Step 6 - Confirm
Check and confirm the request.
Step 7 -  Request form
Download and print the generated request form (pdf), and, if needed, manually add missing information of your patient (e.g. information of the family tree).
Step 8 - Send
Pack and send the material together with the request form. If the material is already present in our laboratory, we still need to receive the printed request form (at this point request forms are not send automatically through this system). Only after receiving the request form the investigation can be started.  
Step 9 - Done
When we have received the request form and the material in good condition we will start the investigation.

We keep improving this system. For the near future our goal is to generate the possibility to send the request forms digitally to our laboratory.

View all our exome panels here

Below you will find all our exome panels in a row. By clicking on the panel of interest you will find all details of this test (e.g. TAT, prices and content of the panel). These exome panels regularly receive an update, in which genes are added (or removed from) the gene panel. If you would like to consult an older version of a gene panel, click here.

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.

To view our policy on disclosing incidental findings click here.

Request- and informed consent forms

Download here several forms for offline use.

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

Do you have feedback or questions?

What could we do better? Your feedback helps us improve.

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:

Turnaround­times and materials

Read more for our turnaround times and preffered materials.

Turnaround­times and materials

Turnaround times and materials
When requesting a specific test, please find the exact turnaround time and the required material.
Service  Turnaround time Required material
Exome sequencing diagnostics (WES)
Exome gene panel analysis: 4 months 2 x 5-10ml EDTA blood
Exome gene panel analysis followed by exome wide analysis (in one report): 4 months
Exome gene panel analysis   followed by exome wide analysis (in two separate reports): 4 - 6 months
Interpretation of exome data 3 months n/a
Array diagnostics (genome wide) 5 weeks 2 x 5-10ml EDTA blood
Multiple gene diagnostics (Gene panels) 3-8 weeks* 2 x 5-10ml EDTA blood
Single gene diagnostics 4-8 weeks* 2 x 5-10ml EDTA blood
Mutation diagnostics
(carrier testing)
4 weeks Gene/array diagnostics: 2 x 5-10ml EDTA blood
Chromosome diagnostics (karyotyping):
2 x 5ml Heparine blood in Natrium- or Lithium-Heparine tubes (neonates 1-2ml)
Farmacogenetics 1-8 weeks* 2 x 5-10ml EDTA blood
Chromosome diagnostics 2-5 weeks Karyotyping: 2 x 5ml Heparine blood in Natrium- or Lithium-Heparine tubes (neonates 1-2ml)
QF-PCR: neonates: 1-2ml EDTA blood
FISH 2-5 weeks  2 x 5ml Heparine blood in natrium- of lithium-heparine tubes
Urgent request
Please, contact: or
Tel: (024 36) 13799
TAT depends on technique
Please, see material under requested service
* In our application system you will find the exact turnaround times for each individual test.

Lab information


The latest news and information!

Read more

About us

Initiative of Radboudumc & Maastricht UMC+

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+.

Together 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+.


Our laboratories are ISO 15189 accredited.


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 of the EMQN, UKNEQAS, CEQAS and CF Network (see certificates for past two years). Genome Diagnostics is registered on the websites of Orphanet and GeneTests.

Interpretation and nomenclature

Interpretation and nomenclature of genetic variants.

Interpretation and nomenclature


Genetic variants are interpreted by accredited clinical laboratory geneticists. Classification of variants is based on a joint guideline of the Dutch and English professional associations: Association of Clinical Genetic Laboratory Diagnostics (VKGL) and Association for Clinical Genetic Science (ACGS). This guideline can be found in the documents section on the VKGL website.
Variants are classified as ‘clearly pathogenic’, ‘likely pathogenic’, ‘variant of uncertain significance’ (VUS/VOUS), ‘unlikely pathogenic’ or ‘clearly not pathogenic’. Generally, reports will not contain ‘unlikely pathogenic’ or ‘clearly not pathogenic’ variants. Similar guidelines from the American College of Medical Genetics (ACMG) have not (yet) been implemented.


The description of variants of one or a limited number of bases, as well as small deletions, duplications and indels, is in accordance with the nomenclature of the Human Genome Variation Society (HGVS). Large deletions, duplications, indels and other chromosomal rearrangements are described in accordance with the International System for Human Cytogenomic Nomenclature (ISCN). The description of this nomenclature is not available online, but in book form.
A combination of ISCN and HGVS is used for the nomenclature of large deletions, duplications, indels and other chromosomal rearrangements that are detected with sequencing technologies. Examples of this nomenclature are available online here.


Radboudumc & Maastricht University Medical Centre.


Radboudumc, Nijmegen

Department of Genetics, section Genome Diagnostics 
Opening hours: mon-fri 08:30-16:30
Tel +31(0)24 36 13799
Fax +31(0)24 36 16658
Courier address 
Genome Diagnostics
Route 815
Geert Grooteplein 10, 6525 GA Nijmegen
The Netherlands
Postal address
Genome Diagnostics
Route 815
P.O. Box 9101, 6500 HB Nijmegen
The Netherlands

Maastricht University Medical Centre

Laboratory Clinical Genetics
Opening hours: mon-fri 08:30-17:00
Tel: +31(0)43 38 71345
Fax: +31(0)43 38 77901
Courier address 
Maastricht UMC+
Laboratory Clinical Genetics
Noordgebouw (route 14)
P. Debeyelaan 25
6229 HX Maastricht
The Netherlands
Postal address
Maastricht UMC+
Laboratory Clinical Genetics
P.O. Box 5800
6202 AZ Maastricht
The Netherlands