Scientific background:

Summary: Thrombomodulin is a glycoprotein located on the surface of endothelial cells. When binding to thrombin it changes the specifity of the protease towards activiting of anticoagulants such as protein C. Mutations of the gene heve been seen in thrombophilia and atypical hemolytic uremic syndrome.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Ohlin AK et al. (1995) The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.
Doggen CJ et al. (1998) A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.
Kunz G et al. (2000) Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.
Faioni EM et al. (2002) Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.
Le Flem L et al. (1999) Mutations in promoter region of thrombomodulin and venous thromboembolic disease.
Thrombomodulin Mutations in Atypical Hemolytic-Uremic Syndrome