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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 07
Method

Three coding exons of the AVP gene are amplified by PCR and analysed by automated bidirectional fluorescent DNA sequencing.

Diagnostic Use / Indications

Familial neurohypophyseal diabetes insipisus (FNDI) is an uncommon, inherited disease with a uniform clinical phenotype characterised by persistent thirst, polydipsia, polyuria and a deficiency of the antidiuretic hormone, arginine vasopressin (AVP). The disease is transmitted in an autosomal dominant mode and appears to be largely, if not completely, penetrant. FNDI has been associated with degeneration of the magnocellular, neurohypophyseal neurons that normally synthesis AVP. Studies indicate that AVP secretion is normal for the first few days of life but then degenerates rapidly and may continue to decline slowly for a decade or more. Mutations appear to direct the production of a pre-prohormone that cannot be folded, processed or degraded properly, which gradually accumulates and eventually destroys vasopressinergic neurons.

Constituent TestsGenomic DNA Extraction ;
External Price$873.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7312

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