Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The AVP gene encodes the antidiuretic hormone, arginine vasopressin, which is secreted by the posterior pituitary. Mutaions cause autosomal dominant central diabetes insipidus.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 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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| 4. |
Orphanet article Orphanet ID 118943
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| 5. |
NCBI article NCBI 551
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| 6. |
OMIM.ORG article Omim 192340
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| 7. |
Wikipedia article Wikipedia EN (Vasopressin)
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