Scientific background:

Summary: In collaboration with the cell adhesion molecule, the protein encoded by the CD2AP gene initiates cytoskeletal polarization. Haploinsufficiency of this gene is associated with familial glomerulosclerosis 3.

Gene: The gene CD2AP resides on chromosome 6 (Chr.6). Its size is 150.7kb. It contains 18 exons--all coding.

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: 

Kim JM et al. (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.