Scientific background:

Summary: The TRPC6 gene encodes an cation channel, which might be involved in podocyte function. When mutated, familial glomerulosclerosis 2 or pulmonary arterial hypertension may ensue.

Gene: The gene TRPC6 is located on chromosome 11 (11q21-q22). It consists of 13 exons, all coding, that stetch about 134.3kb.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		30 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.
	research test	Method		Gene dosage measurements
		Turn-around time		30 working days
		Effort		30 working days
		Specimen		DNA
		Quality assessment		Internal quality control only
	Of the gene rearrangements, this method is useful to detect large deletions or duplications.

Literature: 

Winn MP et al. (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
Winn MP et al. (1999) Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
Yu Y et al. (2004) Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension.