Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Arginine vasopressin

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

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Central diabetes insipidus
AVP

References:

1.

Bahnsen U et al. (1992) A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

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2.

Ito M et al. (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

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3.

Ito M et al. (1993) Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

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Update: Sept. 26, 2018