Scientific background:

Summary: The enzyme encoded by this gene metabolises cortisol to cortisone in the kidney and thereby prevents excessive mineralocorticoid receptor stimulation by cortisol. Deficiency results in clinical symptoms similar to hyperaldosteronism, which is remediable by dexamethasone suppressing cortisol secretion.

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: 

Kamide K et al. (2006) Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.
Bassett MH et al. (2005) Expression profiles for steroidogenic enzymes in adrenocortical disease.
Palermo M et al. (2004) Apparent mineralocorticoid excess syndrome: an overview.
Ge RS et al. (2005) Gene expression in rat leydig cells during development from the progenitor to adult stage: a cluster analysis.
Williams TA et al. (2005) Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.
Carvajal CA et al. (2005) Biochemical and genetic characterization of 11 beta-hydroxysteroid dehydrogenase type 2 in low-renin essential hypertensives.
Alikhani-Koopaei R et al. (2004) Epigenetic regulation of 11 beta-hydroxysteroid dehydrogenase type 2 expression.
Iwai N et al. (2004) Genetic analysis of 22 candidate genes for hypertension in the Japanese population.