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’. In addition the tests performed by Maastricht UMC+ can be regonized by the superscript 1 in the name/title of the test (e.g. FLNC - cardiomyopathie1).
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.
(Rapid) Exome sequencing View the content of our exome panelsBelow 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
- Comprehensive preconception carrier test (Rapid WES is not an option)
- Congenital heartdisease
- Craniofacial anomalies
- Disorders of sex development
- Dyskeratosis congenita and aplastic anemia
- Fetal akinesia
- Hearing impairment
- Heart disorders
- Hemostatic / Thrombotic disorders
- Hereditary cancer
- Hypogonadotropic hypogonadism (Kallmann)
- Inherited bone marrow failure
- Intellectual disability
- Iron disorders
- Liver disorders
- Mendelian inherited disorders
- Metabolic disorders
- Mitochondrial disorders
- Movement disorders
- Muscle disorders
- Neuropathies (HMSN)
- Parkinson disease
- Primary immunodeficiencies
- Renal disorders
- Short stature / Skeletal dysplasia
- Skin disorders
- Sonic hedgehog medulloblastoma
- Vision disorders
If you would like to know more about exome sequencing in general please visit our Exome sequencing diagnostics page.
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 formsBelow 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 and materials
Read more for our turnaround times and preffered materials.
Turnaround times and materialsTurnaround times and materials
When requesting a specific test, please find the exact turnaround time and the required material.
Excess tubes will not be stored!
|Service||Turnaround time||Required material|
|Exome sequencing diagnostics (WES)
||Exome gene panel analysis: 4 months||2x EDTA-blood (3-6ml plastic tubes)|
|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||2x EDTA-blood (3-6ml plastic tubes)|
|Multiple gene diagnostics (Gene panels)||3-8 weeks*||2x EDTA-blood (3-6ml plastic tubes)|
|Single gene diagnostics||4-8 weeks*||2x EDTA-blood (3-6ml plastic tubes)|
|4 weeks||Gene/array diagnostics: 2x EDTA-blood (3-6ml plastic tube)
Chromosome diagnostics (karyotyping):
2 x 5ml Heparine blood in Natrium- or Lithium-Heparine tubes (neonates 1-2ml)
|Farmacogenetics||1-8 weeks*||2x EDTA-blood (3-6ml plastic tube)|
|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|
||Please, contact: firstname.lastname@example.org or
Tel: (024 36) 13799
TAT depends on technique
|Please, see material under requested service|
Initiative of Radboudumc & Maastricht UMC+
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 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).
Our laboratories are ISO 15189 accredited.
QualityThe 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
Interpretation and nomenclature of genetic variants.
Interpretation and nomenclatureInterpretation
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, NijmegenDepartment 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
Geert Grooteplein 10, 6525 GA Nijmegen
P.O. Box 9101, 6500 HB Nijmegen
Maastricht University Medical CentreLaboratory Clinical Genetics
Opening hours: mon-fri 08:30-17:00
Tel: +31(0)43 38 71345
Fax: +31(0)43 38 77901
Laboratory Clinical Genetics
Noordgebouw (route 14)
P. Debeyelaan 25
6229 HX Maastricht
Laboratory Clinical Genetics
P.O. Box 5800
6202 AZ Maastricht
Find answers to the most frequently asked questions.
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 email@example.com 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.
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.