Aarhus University Hospital Skejby
Genetic analysis | Microarrays | Cell Line Authentication
Molecular 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.
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.
|
|
 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:
|
| 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 |
 Lisbeth Nørum Pedersenphone: +45 784 55304 |
 Mette Gaustadnesphone: +45 784 55305 |
Related Links
Updated:5 March, 2013
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