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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 CodeMOLP
Method

All four coding exons of the AQP2 gene are amplified using the polymerase chain reaction (PCR) and analysed by automated bidirectional fluorescent DNA sequencing.

Diagnostic Use / Indications

Defects in AQP2 are the cause of Autosomal Nephrogenic Diabetes Insipidus (ANDI) [MIM:125800] also known as Diabetes Insipidus Nephrogenic Type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water in response to AVP. It is characterised by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.

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-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Interpretation

Over 25 missense, nonsense and splicing mutations have been described in the coding exons. In addition, a number of small deletions and insertions have been described. Gross insertions and deletions have not been identified for this gene.

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 genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  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 Number4566

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