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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 16
Method

Exons 2, 3, 4 and 5 of cationic trypsinogen (PRSS1), exons 1 and 3 of PSTI (SPINK1), exon 3 of cystic fibrosis transmembrane conductance regulator (CFTR) and exon 7 of chymotrypsinogen (CTRC) are analysed by bidirectional DNA sequencing.

Diagnostic Use / Indications

Requested as part of investigations into a family and/or personal history of severe pancreatitis. Please read the HP testing guidelines before referring specimens.
 

Constituent TestsGenomic DNA Extraction ;
External Price$411.68(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Please complete the HP referral form and include with test request.

Patient Evaluation for Hereditary Pancreatitis Genetic Testing:

1) Are the criteria for HP testing satisfied?

a) Clinical details: Ideally, early-onset recurrent pancreatitis.

b) Family history: Ideally, one or more first-degree relatives or two or more second-degree relatives.

 

 

 

 
                                                                                                                               
               
               
               
 

 

Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient
  

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

 

 

 

 

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. Note to overseas labs: Report and invoice will be directed to the referring laboratory only. It is the referring laboratory’s responsibility to ensure that all interested parties receive test results and are appropriately charged.

 

Delphic Number Test Number4577

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