Scientific background:

Summary: This is a new emerging candidate gene responsible for hypertension.

Gene: The gene exhibits 60% sequence similarity to ACE.

Molecular anatomy: The enzyme seems to be an important element of tissue renin-agiotensin system. To the moment it has been found in murine heart and kidneys.

Pathophysiology: The catalytic activity of ACE2 is excerted by cleavage of a single amino acid residue at the carboxyl terminus. The physiological role is conversion of angiotensin II to angiotensin-(1-7). The enzyme is resistant to ACE inhibitors.

Clinical signs: In three distinct models of hypertension, reduced expression of the protein in the kidney correlated with blood pressure. Still, there are not known human diseases caused by mutations of ACE2.

Methodology:

	research test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		25 working days
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	research test	Method		Hotspot sequencing
		Turn-around time		25 working days
		Effort		25 working days
		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.

Literature: 

Nagel M, BMC Nephrol. 2005 Jan 11;6(1):1
Chappel MC et al. (2006) ACE and ACE2: their role to balance the expression of angiotensin II and angiotensin-(1-7).