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Vanderbilt Pathology Laboratory Services

Test Directory



HEREDITARY PANCREATITIS (R122H, N291, A16V, D22G, K23R) (HTP)

Department: Molecular Diagnostics
Test Synonym(s): HTP, PRSS1 Gene
CPT Codes: 81401
Methodology: Direct Detection of Mutation R122H by PCR and evaluated by gel electrophoresis; DNA sequence analysis of PRSS1 gene for N29I, A16V, D22G and K23R
Tube Type: Lavender top (EDTA)
Specimen: Whole blood
Alternate Specimen: None
Pediatric Requirements: 0.5 mL whole blood
Volume: 4 mL whole blood
Minimum Volume: 0.5 mL whole blood
Temperature: EDTA: room temperature or refrigerated



Stability: Room temperature: 2 days, Refrigerated: 3 days
Reasons for Rejection: Client will be notified by Molecular Diagnostics Lab if specimen is rejected.
Days Performed: Once a week - variable days
Times Performed: Batched
TAT: 7 - 10 days
Significance: Direct detection of previously reported mutations A16V, D22G, K23R, N29I, R122H
Special Instructions: Call the Molecular Diagnostics Laboratory at 615-343-8121 if additional assistance is needed regarding specimen requirements or submission. Please notify Molecular Genetics Laboratory if patient has received a transfusion in the prior 2 weeks. Click here to print the Molecular Diagnostics requisition.

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