Scientific background:

Summary: Renin catalyzes angiotensin activation and by that token plays an important role in blood pressure and electrolyte balance. During ontogenesis ist has an imprtant funktion in regulation of kidney development. Mutation account for autosomal recessive or dominant disorders of blood pressure regulation or renal malformations.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 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		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: 

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Caron KM et al. (2004) Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.
Chirgwin JM et al. (1984) Mouse kidney renin gene is on chromosome one.
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Fritz LC et al. (1986) Characterization of human prorenin expressed in mammalian cells from cloned cDNA.
Frossard PM et al. (1986) Two RFLPs at the human renin (ren) gene locus.
Frossard PM et al. (1999) Human renin gene BglI dimorphism associated with hypertension in two independent populations.
Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
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Zivná M et al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.