Genetic analysis

MDL initiated sequencing of genes related to thyroid, colorectal and breast cancer in 1996 and has since provided this service to a large part of Western Denmark. Later on, the diagnostic program was extended with the analysis of mutations related to thrombosis and metabolism.

Today, MDL offers several molecular diagnostic services for mutation screening in hereditary forms of various diseases (see list of analyses below).

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 v14 (Danish version) updated September 22 2009

Request form (English version) updated November 19 2008

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
	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
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
	Coagulationfactor II, (prothrombin) polymorphism screen (c. 20210 G>A)
	Coagulationfactor V Leiden mutation (c.1691 G>A)

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