Request system Genome Diagnostics How does it work?
Since the beginning of June 2017, a new request system is offered by the section of Genome diagnostics. With this new system you can request genetic testing online, followed by the possibility to print the request form, which can be send to us together with the material.
Request system Genome Diagnostics How does it work?
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 hereBelow 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).
- ALS, amyotrophic lateral sclerosis
- Congenital heartdisease
- Craniofacial anomalies
- Disorders of sex development
- Dyskeratosis congenita
- Hearing impairment
- Heart disorders
- Hemostatic / Thrombotic disorders
- Hereditary cancer
- Hypogonadotropic hypogonadism (Kallmann)
- Intellectual disability
- Iron 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
- Vision disorders
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 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
Turnaroundtimes and materials
Read more for our turnaround times and preffered materials
Turnaroundtimes and materialsTurnaround 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|
|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|
||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+.
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 laboratories are 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 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.
- Competentieverklaring/Competency Statement
- Certificaat accreditatie ISO15189_2012 (Nederlands)
- Certificate accreditation ISO15189_2012 (English)
- EMQN Certificate 2014
- EMQN Certificate 2014_1
- EMQN Certificate 2015_2
- EMQN Certificate 2018
- UKNEQAS Certificate molecular genetics 2013
- UKNEQAS Certificate molecular genetics 2014
- CEQAS Performance certificate 2014
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