Scientific background:

Summary: The gene encodes a functional protein of glomerular podocytes. If mutated familial glomerulosclerosis 1 occurs.

Gene: The gene ACTN4 that is located on chomosom 19 (19q13) spans about 84.8kb. The 21 exons are 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.

Literature: 

Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Kos CH et al. (2003) Mice deficient in alpha-actinin-4 have severe glomerular disease.
Patrie KM et al. (2002) Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.