Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method   90040-7

LOINC Code


LOINC code90040-7
nameAlpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
descriptionThis assay detects the dosage (deletion and duplication) of alpha globin genes, including HBZ, HBM, HBA2, HBA1, HBQ1, located on the short (p) arm of chromosome 16 at position 13.3. The assay can also be used to detect the presence of deletions in the upstream LCR/HS-40 regulatory region. Deletions of the HBA1 and/or HBA2 genes are the most common cause of alpha thalassemia and in rare cases, mutations in or near these genes can also cause the disease. [GHR condition: alpha-thalassemia]
statusACTIVE

Fully-Specified Name

componentAlpha globin gene cluster & HS-40 region deletion+duplication
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.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameAlpha globin genes + HS-40 Del+Dup Bld/T

Basic Attributes

classMOLPATH.DELDUP
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

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 updated2.66
last change typeNAM  - change to Analyte/Component
change reasonCorrected Component from "HBA1 & HBA2 gene deletion" to accurately represent assays defined as "HBA1 & HBA2 gene deletion" but that are actually detecting deletions and duplications within the alpha globin gene cluster (16p13.3), which includes HBA1 & HBA2 genes. These assays also commonly assess deletions in the HS-40 upstream regulator element.

Related Names

Alfa
Alpha globin genes + HS-40
Amplification
Blood
Del
Del+Dup
Deletions
Document
Dp
Finding
Findings
Genetics
HBA1 & HBA2 deletion
Heredity
Heritable
Inherited
LCR region
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.DELDUP
PCR
Point in time
Random
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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