Molecular Diagnostic Laboratory
Department of Molecular Medicine,
Aarhus University Hospital Skejby


Genetic analysis | Microarrays | Cell Line Authentication

 


DNA sequenceMolecular Diagnostics
MDL offers molecular diagnostic services to support diagnosis in hereditary disease.
Our analyses repertoire includes mutation screening in different cancer types, sudden cardiac death, endocrine and metabolic disease, and thrombosis.

Please see a list of analyses below.

 

Accredited quality
The molecular diagnostic service has been established in 1996 and is provided to Region Midt (central Denmark) and other regions. Some genetic tests are provided on a national basis.

The department is accredited by DANAK/ILAC by the international laboratory standard DS/EN ISO 15189:2008 for medical examination - genetics. The laboratory is accredited for a flexible scope regarding systems, components and, performance of the method. The laboratoy has demonstrated relevance and reliability of the accredited examinations.
Accreditation Logo

MDL participates in the external quality assessment programme of EMQN (European Molecular Genetics Quality Networks) for sequencing and schemes for single analyses as HNPCC.

How to order a genetic test
We only report results to the referring clinician. Genetic tests should always be accompanied by genetic counselling. For clinical guidance, please click on the name of the syndrome.
For clinical guidance in Danish refer to the website of the Department of Molecular Medicine at Aarhus University Hospital.
To request a genetic analysis, please use one of the forms below. First time requests from outside Denmark will need to include the completed the Payment Agreement Form.

Rekvisitionsblanket v24 (Danish version) updated March 5th, 2013

Request form v24 (English version) updated March 5th, 2013
Payment Agreement Form (foreign first time customers) updated September 2011

 

Coloncancer
HNPCC (hereditary nonpolyposis colorectal cancer) genes MLH1, MSH2, MSH6 mutation screen
FAP (familial adenomatous polyposis) gene APC (adenomatous polyposis coli) mutation screen
Multiple polyposis gene MUTYH (MUT Y homolog) mutation screen
Peutz-Jeghers syndrome gene STK11/LKB1 mutation screen
Juvenile Polyposis gene SMAD4 and BMPR1A mutation screen
Gorlin syndrome gen PTCH1 mutation screening
Cowden syndrome gene PTEN mutation screen
Analsis of tumour tissue

gene KRAS mutation screen

Li-Fraumeni syndrome gene TP53
Endocrinology
Multiple endocrine neoplasia MEN-1 (typically affects parathyroid, pancreas, and pituitary gland): MEN1 gene (menin) mutation screen
MEN-2a,2b, FMTC (associated with medullary thyroid carcinoma): RET gene (RET) mutation screen
Primary hyperparathyroidism Hyperparathyroidism-Jaw tumor syndrom (HPT-JT syndrom):
gene HRPTJ2/CDC73 mutation screen
Pituitary adenomas Pituitary adenoma predisposition (PAP): AIP gene (aryl hydrocarbon receptor interactive protein) muation screen

Skin disease, atopy
Filaggrin mutation gene FLG mutation screen: p.Arg501X og c.2282del4
Hereditary heart disease
LQTS, Long QT syndrome

 

genes KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 mutation screen:
(High Resolution Melting Analysis (HRMA)and DNA sequencing

 

BS, Brugada syndrome gene SCN5A mutation screen
CPVT, Catecholaminergic polymorphic ventricular tachycardia gene RYR2
ARVC, Arrythmogenic
Right Ventricular Cardiomyopathy

genes PKP2, DSP, DSG2, JUP og DSC2 mutation screen
ARVC type 5, Arrythmogenic
Right Ventricular Cardiomyopathy
gene TMEM43
DCM, Dilated Cardiomyopathy gene LMNA

 

Please contact our academic staff for further information

Friedrik Wikman

Friedrik Wikman
phone: +45 784 55303

Lisbeth NorumLisbeth Nørum Pedersen
phone: +45 784 55304
Mette GaustadnesMette Gaustadnes
phone: +45 784 55305

 

Related Links

EDDNAL - European Directory of DNA Diagnostic Laboratories

GeneTests

eurogentest.org


Updated:5 March, 2013

 
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MOMA, Aarhus University Hospital, Brendstrupgårdsvej 100, 8200 Aarhus N, Denmark     
Phone +45 7845 5310| Fax +45 8678 2108 | email: contact@mdl.dk | webmaster: webmaster@mdl.dk