Patient Evaluation for Hereditary Pancreatitis Genetic Testing:
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.
Additional Specimen Information
This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
Aliquot Instructions
Sample Type
Whole Blood
Transport to Lab
Ambient (8 - 24 degrees Celsius)
Additional Referral/Aliquot Information
This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
Test Method
Patient DNA is analysed using a Twist Bioscience next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets the following genes that have been implicated in hereditary pancreatitis: CFTR (NM_000492.4), PRSS1 (NM_002769.5), SPINK1 (NM_003122.5), CTRC (NM_007272.3) and CPA (NM_001868.4).
Non-Funded Test Cost
$600.00 (Exclusive of GST)
Billing Code
9643
Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.
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.
