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Electronic request system Genome Diagnostics

The section Genome Diagnostics provides prenatal and postnatal, molecular and cytogenetic diagnostics for a large number of hereditary and congenital disorders. Do you have specific questions? For example, a test that is not in our current portfolio? Please contact us.


Electronic request system Genome Diagnostics

In the section Genome Diagnostics of the department Human Genetica 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

Here you can download several forms


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


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 here the turnaround times of our tests


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



Contact information

Radboudumc, Nijmegen

Department of Genetics, section Genome Diagnostics 
Opening hours: mon-fri 08:30-17:00
Tel + 31(0)24 36 13799
Fax + 31(0)24 36 16658
E-mail: gen@radboudumc.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
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