Scientific background:

Summary: The EYA1 gene encodes a protein that plays a role in the development of kidney, branchial arches, eye, and ear. Mutations cause autosomal dominant branchiootorenal dysplasia syndrome 1.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 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		Multiplex Ligation-Dependent Probe Amplification
		Turn-around time		25 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	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: 

Abdelhak S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
Rowley PT et al. (1969) Familial hearing loss associated with branchial fistulas.
Kumar S et al. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
Rickard S et al. (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
Estefanía E et al. (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
Olavarrieta L et al. (2008) Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.