PRSS1 gene full mutation analysis in Blood or Tissue by Sequencing   94215-1

LOINC Code


LOINC code94215-1
namePRSS1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull sequence analysis to test for the presence of a mutation in all coding regions and intron/exon boundaries of the PRSS1 gene. Testing is used to confirm the diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis and allow for predictive and diagnostic testing in affected family members.
statusACTIVE

Fully-Specified Name

componentPRSS1 gene full mutation analysis
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short namePRSS1 gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.68
last change typeADD  - added

Related Names

Blood
Cationic trypsinogen
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Hereditary pancreatitis
Heredity
Heritable
high-throughput sequencing
HPC
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
PCTT
Point in time
protease, serine, 1 (trypsin 1)
Random
sequencing of entire coding region
Tissue
Tissue, unspecified
TRP1
TRY1
TRY4
TRYP1
Trypsin 1 precursor
Trypsinogen 1
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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