94215-1LOINC 2.82
PRSS1 gene full mutation analysis in Blood or Tissue by Sequencing
PRSS1 gene Full Mut Anl Bld/T Seq
Definition
- Full 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.
Component
- PRSS1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
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
Index terms
- 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