HBG1 and HBG2 genes full mutation analysis in Blood or Tissue by Sequencing   95795-1

LOINC Code


LOINC code95795-1
nameHBG1 and HBG2 genes full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequence analysis of the gamma globin genes, HBG1 and HBG2, is performed to assess for variants causing conditions such as neonatal hemolytic anemia, cyanosis, methemoglobinemia, and nondeletional hereditary persistence of fetal hemoglobin (HPFH). Testing is useful to characterize abnormal hemoglobins identified by electrophoresis and suspected to be due to gamma chain variants. This code is used for the test order and to represent the overall report, which may include the variant(s) found, testing method, interpretation, recommendations and references.
statusACTIVE

Fully-Specified Name

componentHBG1 gene & HBG2 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 nameHBG1 + HBG2 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

test rank9298 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name

Related Names

Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
gamma Globin
Genetics
HBG
HBG1 + HBG2
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
Point in time
Random
sequencing of entire coding region
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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