Scientific background:

Summary: The gene product of PKD2 is a membrane protein that in its C terminus shows homology with Polycystin 1 the gene product of PKD1. Both play a role in tubular morphogenesis and either genes mutated results in autosomal dominant polycystic kidney disease.

Gene: The gene located on chromosome 4 (4q21-q23) spans over 68 kb. It consists of 15 exons. Translation starts in exon 1. The promoter has no TATA box but contains binding sits for various transcription factors, including E2F, EGRF, ETS, MZF1, SP1, and ZBP89.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 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: