Ordering Recommendation

Preferred test for individuals with history of idiopathic pancreatitis.

Mnemonic
PANC PANEL
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

28-35 days

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval
Interpretive Data

Characteristics of Pancreatitis: Inflammation of the pancreas resulting in abdominal pain, fever, nausea and vomiting with no obvious environmental trigger (ie. chronic alcohol exposure, gallstones, abdominal trauma, medications, infections and tumors).
Incidence:
Approximately 1 in 50,000.
Inheritance:
Autosomal dominant for PRSS1; autosomal recessive for CFTR, CTRC and SPINK1.
Causes:
One dominant pathogenic germline PRSS1 mutation, or two CFTR mutations, or two SPINK1 mutations, or two CTRC mutations, or possibly a combination of mutations in two of the above recessive genes.
Clinical Sensitivity: Approximately 50 percent of individuals with idiopathic pancreatitis have at least one pathogenic mutation in CFTR, CTRC, PRSS1 or SPINK1. An estimated 80 percent of hereditary pancreatitis is due to PRSS1 gene mutations.
Methodology:
Bidirectional sequencing of all coding regions and intron/exon boundaries of the CFTR, CTRC, PRSS1 and SPINK1 genes.
Analytical Sensitivity and Specificity: 99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note

N/A

Hotline History
N/A
CPT Codes

81223; 81404; 81405

Components
Component Test Code* Component Chart Name LOINC
2002006 IP SEQ PAN Specimen 31208-2
2002007 CFTR Sequencing 21654-9
2002008 PRSS1 Sequencing 21692-9
2002009 SPINK1 Sequencing 41051-4
2002010 Pancreatitis, Idiopathic Interpretation 50398-7
2010875 CTRC Sequencing 35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing