Scientific background:

Summary: The gene C3 encodes a crucial complement component. Loss-of-function mutations result in autosomal recessive C3 deficiency whereas gain-of-function mutations have been observed in atypical HUS. Some polymorphisms have been associated with age-related macula degeneration.

Methodology:

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

Maller JB et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration.
Brown KM et al. (2006) Influence of donor C3 allotype on late renal-transplantation outcome.
Yates JR et al. (2007) Complement C3 variant and the risk of age-related macular degeneration.
Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3.
Fang CJ et al. (2008) Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.
Loirat C et al. (2008) Complement and the atypical hemolytic uremic syndrome in children.
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.