Scientific background:

Summary: The gene COL4A1 encodes a collagen alpha chain that is present in almost all basement membranes. Mutations account for autosomal dominant renal, vascular, and neurological disorders.

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: 

Favor J et al. (2007) Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.
Zhang KW et al. (2007) Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
Pollner R et al. (1997) Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes.
Sado Y et al. (1998) Organization and expression of basement membrane collagen IV genes and their roles in human disorders.