SERPINA1 gene full mutation analysis in Blood or Tissue by Sequencing   94222-7

LOINC Code


LOINC code94222-7
nameSERPINA1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequence analysis to identify a mutation within the coding regions and intron/exon boundaries of the SERPINA1 gene. Testing is performed for the diagnosis of Alpha-1-antitrypsin (A1A), particularly when a low or deficient alpha-1-antitrypsin serum levels is not explained by routine testing.
statusACTIVE

Fully-Specified Name

componentSERPINA1 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 nameSERPINA1 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

A1A
A1AT
AAT
Alpha-1-antitrypsin deficiency
alpha1AT
Anti-elastase gene
Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
PI
PI1
Point in time
PRO2275
Protease inhibitor 1
Random
sequencing of entire coding region
Serine (or cysteine) proteinase inhibitor
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Tissue
Tissue, unspecified
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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