Hereditary pancreatitis NGS gene panel

Diagnostic Use

Hereditary pancreatitis gene panel analysis is requested as part of investigations into a family and/or personal history of severe and recurrent pancreatitis. The analysis tests for sequence and copy number variants in PRSS1, SPINK1, CFTR, and CELA3B (as recommended by PanelApp-UK).

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

Chronic Pancreatitis
idiopathic pancreatitis
Pancreatitis, genetic testing

Turnaround Time

4 weeks

Test Code

4577

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Pre-testing Requirements

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), CELA3B (NM_007352.4).
Please note that the content of this hereditary pancreatitis gene panel is restricted to green genes in PanelApp-UK, and therefore no longer includes CTRC and CPA1

Non-Funded Test Cost

$636 (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.

Contact Information

Enquiry Form