Scientific background:

Summary: The PLCE1 gene belongs to the phospholipase family. Mutations cause autosomal recessive congenital nephrotic syndrome type 3.

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: 

Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.
Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
Hinkes BG et al. (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.
Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.
Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.
Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.