Scientific background:

Summary: Mutations in PKD1 result in the most common form of autosomal dominant polycystic kidney disease (ADPKD).

Gene: The PKD1 gene spans about 48kb and consists of 46 exons. The gene is located on chromosome 16 (16p13.3-p13.12). The anterior part of the gene is duplicated several times on chromosome 16. These repetitive structures show 95% sequence homology. These gene fragments are transcribed but not translated, so they are considered pseudogenes.

Clinical signs: The most obvious symptom is enlarging renal cysts. Such cysts may also occur in the liver, pancreas, arachnoid membrane, and seminal vesicles. Vascular abnormalities include intracranial aneurysms and dolichoectasias, dilatation of the aortic root, and dissection of the thoracic aorta. Also common are mitral valve prolaps and abdominal wall hernias.

Epidemiology: The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is 1:400 to 1:1,000 live births. It is not only one of the most common monogenic hereditary diseases; it is also the third most common single cause of end-stage renal disease. Mutations of the PKD1 gene account for about 85% of ADPKD.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		30 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		Multiplex Ligation-Dependent Probe Amplification
		Turn-around time		25 working days
		Effort		large
		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: 

Horie S et al. (2005) ADPKD: molecular characterization and quest for treatment.
Torres VE et al. (2006) Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases.