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Test Identifier Information

 
Registration CodeMUTA 07
Method

All three coding exons of the AVPR2 gene are amplified using the polymerase chain reaction (PCR) and analysed by automated bidirectional fluorescent DNA sequencing.

Diagnostic Use / Indications

X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal Arginine-Vasopressin V2 receptor responses due to inactivating mutations in the AVPR2 gene. Affected male patients are unable to concentrate their urine after the administration of the antidiuretic hormone arginine-vasopressin (AVP). They consequently present with polyuria, polydipsia and, if unable to maintain fluid intake, hypernatermia. Individuals have also been described who present with a nephorgenic syndrome of inappropriate antidiuresis. These individuals present with persistent hyponatremia with an inability to excrete a maximally dilute urine and exhibit unmeasurable AVP level. These patients have gain-of-function mutations in the AVPR2 gene which cause constitutive activation of the receptor with water retention and consequent hyponatremia.

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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