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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 - 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 2 - 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 ‘analysis of the complete test’ or ‘targeted analysis of a familial mutation’.
Step 3 – Shopping cart
Another test can be added to the shopping cart or you can continue with the order.
Step 4 – Personal details
Patient details, clinical information and your own information (requesting physician) can be filled out online.
Step 5 - Confirm
Check and confirm the request.
Step 6 -  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 7 - 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 8 - 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 and to generate a login/profile where your personal details can be saved.
 



Afname en verzend­condities

Voor uitgebreide instructies over materiaal, afname- en verzendcondities verwijzen wij u door naar de homepage van Genoomdiagnostiek. Hierop staan uitgebreide instructies voor het afnemen en verzenden van bloed, beenmerg, huidbiopten, FFPE, cellijnen, plasma, foetaal materiaal en wangslijmvlies. Zie: https://www.radboudumc.nl/genoomdiagnostiek

About us


About us

At the section Genome Diagnostics of the department of Human Genetics you can request diagnostic tests for diagnosis of genetic disorders. Our laboratory has been RvA / CCKL accredited since 2004 and ISO15189: 2012 accredited since June 2014.

Within the section Genome diagnostics we provide both prenatal and postnatal genetic diagnostics. The laboratory provides molecular genetic and cytogenetic diagnostics to a large number of hereditary and congenital disorders.

Forms

Download here the blanco requestform or informed consent forms for offline use.


Forms

Below you can find:
  •  A blanc requestform; which you can use in case you do not have the ability to perform your 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

Lab information


Contact

Radboudumc & Maastricht University Medical Centre


Contact

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
E-mail: info@genomediagnosticsnijmegen.nl
Courier address 
Radboudumc 
Genome Diagnostics
Geert Grooteplein 10, 6525 GA Nijmegen
Route 815
Postal address
Radboudumc
Genome Diagnostics
Route 815
Postbus 9101, 6500 HB Nijmegen

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
Email: cmo.klin.genetica@mumc.nl
 
Courier address 
Maastricht Universiteit Medisch Centrum
Laboratory Clinical Genetics
Noordgebouw
Joseph Bechlaan 113
6229 GR Maastricht
Postal address
Maastricht Universiteit Medisch Centrum
Laboratory Clinical Genetics
Postbus 5800
6202 AZ Maastricht

Quality

Our laboratory is ISO 15189_2012 accredited


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 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.

TAT

View for turnaround times and materials


TAT

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 + 3 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)
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: gen@radboudumc.nl 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.
 

Exome panels


FAQ's

Find answers on the most frequently asked questions

Read more

FAQ's


  • Of course, please just skip of the patientdetails field in the ordring process and put the sticker on this position after printing the requestform.

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