Aarhus University Hospital Skejby
Genetic analysis | Microarrays | Cell Line Authentication
Molecular Diagnostics
MDL offers molecular diagnostic services for mutation
screening in hereditary forms of various diseases.
See a list of analyses below.
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.
MDL participates in the external quality assessment programme of EMQN (European Molecular Genetics Quality Networks) for sequencing and schemes for single analyses as HNPCC.
For clinical guidance (in Danish) refer to the website of the Department of Molecular Medicine at Aarhus University Hospital Skejby in Region Midt.
We only report results to the ordering clinician. Genetic tests should always be accompanied by genetic counselling.
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 v20 (English version) updated November 2011 |
| Payment Agreement Form (foreign first time customers) updated September 2011 |
| Cancer | |
| Colon | HNPCC (hereditary nonpolyposis colorectal cancer): MLH1, MSH2, MSH6 genes mutation screen |
| FAP (familial adenomatous polyposis): APC gene (adenomatous polyposis coli) mutation screen | |
| Multiple polyposis: MYH gene (MUT Y homolog) mutation screen | |
| Peutz-Jeghers syndrom: gene STK11/LKB1 mutation screen | |
| Juvenile Polypose: 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 syndrom: gene TP53 | |
| 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 |
| Metabolism | |
| Hyperhomocysteinemia | Methylentetrahydrofolate reductase (MTHFR) polymorphism screen (MTHFR c.677 C>T) |
| Cystathionin b-syntase (CBS) mutation screen (CBS c.833 T > C) | |
| Cystathionin b-syntase (CBS) mutation screen (DNA sequencing) | |
| Lactose intolerance (adult–type hypolactasia) | Lactase mutation screen (LCT g.-13910C>T) |
| Thrombosis | |
| Coagulation factor II, (prothrombin) polymorphism screen (g. 20210 G>A) | |
| Coagulation factor V Leiden mutation (c.1691 G>A) | |
| Skin disease, atopy | |
| Filaggrin mutation | gene FLG mutation screen: p.Arg501X og c.2282del4 |
| Sudden Cardiac Death | |
| 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 |
|
For further information please contact either: Lisbeth Nørum Pedersen |
Related
links |
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|
EDDNAL - European Directory of DNA Diagnostic Laboratories | ||
|
GeneTests | ||
|
eurogentest.org | ||
Updated:30 January, 2012
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