Molecular Diagnostic Laboratory, Aarhus

Molecular Diagnostic Laboratory

Nordic Centre of Excellence in Molecular Medicine

Genetic analysis | Microarrays

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.

Rekvisitionsblanket v15 (Danish version) updated May 2010

Request form (English version) updated May 2010

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
Multiple endocrine neoplasia	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)
Sudden Cardiac Death
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
ARVC, Arrythmogenic Right Ventricular Cardiomyopathy	genes PKP2, DSP, DSG2, JUP og DSC2 mutation screen

For further information please contact: Else Marie Vestergaard, MD PhD else.marie.vestergaard@ki.au.dk Phone +45 8949 5101 or 9410	Related links
		EDDNAL - European Directory of DNA Diagnostic Laboratories
		GeneTests
		eurogentest.org

Updated: 18 June, 2010

MOMA, Aarhus University Hospital, Skejby, Brendstrupgårdsvej 100, 8200 Århus N, Denmark
Phone +45 8949 9410 | Fax +45 8678 2108 | email: contact@mdl.dk | webmaster: webmaster@mdl.dk