Scientific background:

Summary: The protein product of the HABP2 gene is a protease, which activates pro-urokinase. A common polymorphism is associated with susceptibility to carotid stenosis and venous thromboembolism.

Gene: The HABP2 gene spans about 36,5kb on chromosome 10 (10q25-q26). Three splice variants are known. The largest consists of 13 exons.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Hotspot sequencing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	Only in the region of interest, 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: 

Franchi F et al. (2006) Marburg I polymorphism of factor VII-activating protease and risk of venous thromboembolism.
Altincicek B et al. (2006) A positively charged cluster in the epidermal growth factor-like domain of Factor VII-activating protease (FSAP) is essential for polyanion binding.
van Minkelen R et al. (2005) The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis.
Nakazawa F et al. (2005) Extracellular RNA is a natural cofactor for the (auto-)activation of Factor VII-activating protease (FSAP).
Hoppe B et al. (2005) Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism.
Willeit J et al. (2003) Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis.
Mann KG et al. (2003) Factor VII-activating protease: coagulation, fibrinolysis, and atherothrombosis?
Kannemeier C et al. (2001) Factor VII and single-chain plasminogen activator-activating protease: activation and autoactivation of the proenzyme.