Scientific background:

Summary: The AVP gene encodes the antidiuretic hormone, arginine vasopressin, which is secreted by the posterior pituitary. Mutaions cause autosomal dominant central diabetes insipidus.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		5 working days
		Effort		little
		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: 

Ito M et al. (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
Bahnsen U et al. (1992) A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
Ito M et al. (1993) Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.