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Hereditary Pancreatitis Panel
HEREPAN
Synonyms
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Allscripts (AEHR) Order Name
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Hereditary Pancreatitis Panel
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Sunrise Clinical Manager (SCM) Order Name
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Hereditary Pancreatitis Panel
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EPIC Order Name
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Clinical Info
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Unexplained acute pancreatitis in early childhood or teenage yearsRecurrent acute pancreatitis of unknown cause, especially before the age of 20Chronic pancreatitis, especially before the age of 20
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Specimen Type
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Blood
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Container
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Lavender Top Tube
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Collection Instructions
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Container/Tube: Lavender top tube
Specimen: 2 - 5 mL Whole Blood
Transport Temperature: Room Temperature
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Transport Instructions
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Room Temperature
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Specimen Stability
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7 Days Refrigerated
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Methodology
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Deletion/Duplication Analysis
Next-Gen Sequencing
Capillary Sequencing
Genes
CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1
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Days Performed
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TAT: 21 Days
Pancreatitis is defined as inflammation of the pancreas, with clinical features that can include pain, calcifications, necrosis, fatty replacement, fibrosis, scarring and other complications. Pancreatitis can be divided into three categories: idiopathic sporadic pancreatitis, familial pancreatitis, and hereditary pancreatitis. Idiopathic sporadic pancreatitis is a single incidence in a family of unknown etiology, and is less likely to be genetic. Familial pancreatitis is characterized by an increased incidence of pancreatitis in a family and may have a multifactorial cause including contributions from both genetics and environment. Hereditary pancreatitis refers to pancreatitis that has been proven or appears to be caused by germline variant(s) in one or more pancreatitis predisposition gene(s), such as the appearance of autosomal dominant inheritance within a family. Hereditary pancreatitis is more likely to be related to genetic risk factors; however, inheritance may be complex and the risk can be modified by a combination of genetic variants, family history, environmental factors (such as smoking and alcohol consumption), and unknown risk or protective factors. Variants in the genes included on this panel, CASR, CFTR, CPA1, CTRC, PRSS1, and SPINK1, are implicated in hereditary pancreatitis.
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Performing Laboratory
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GeneDx
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CPT
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81221
81223
81401 x 2
81405
81479
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PDM
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225000
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Result Interpretation
See Report
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Forms
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