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LOINC Code 90040-7: Alpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc (Bld/Tiss)

90040-7 is a LOINC code used to identify Alpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc (Bld/Tiss) in laboratory and clinical observation data. You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges. LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component Alpha globin gene cluster & HS-40 region deletion+duplication. It is commonly used with the system or sample type Bld/Tiss.

Reviewed by HealthAssure Clinical TeamUpdated 21 May 2026

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component Alpha globin gene cluster & HS-40 region deletion+duplication. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

  • Used in lab systems, EHRs, and clinical data exchange.
  • May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
  • Status: ACTIVE
  • Order vs observation: Both
  • Method: Molgen

What it does not mean

  • The code identifies the observation or test, not the actual result.

Key facts

Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
Alpha globin gene cluster & HS-40 region deletion+duplication
This 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 conditionalpha-thalassemia]
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

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Alpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc (Bld/Tiss)Alpha globin gene cluster and HS-40 region deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics methodAlpha globin genes + HS-40 Del+Dup Bld/TAlpha globin gene cluster & HS-40 region deletion+duplicationMOLPATH.DELDUPAlpha globin gene cluster and HS-40 region deletion/duplication analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code90040-7
SystemLOINC
Display nameAlpha globin gene cluster and HS-40 region del and dup mutation analysis Molgen Doc (Bld/Tiss)
DescriptionAlpha globin gene cluster & HS-40 region deletion+duplication
Short nameAlpha globin genes + HS-40 Del+Dup Bld/T
ComponentAlpha globin gene cluster & HS-40 region deletion+duplication
PropertyFind
TimingPt
System (specimen)Bld/Tiss
ScaleDoc
MethodMolgen
ClassMOLPATH.DELDUP
StatusACTIVE
Order/ObservationBoth

Flags

BillableNo
Valid clinical useNo

Source

SourceLOINC
Version2.82
Releasemain
First released2.65
Last changed2.66

Consumer names

Alpha globin gene cluster and HS-40 region deletion/duplication analysis, Blood or tissue specimen

Part names

Alpha globin gene cluster & HS-40 region deletion+duplicationFindPtBld/TissDocMolgenAlpha globin gene cluster and HS-40 region deletion and duplicationFindingPoint in time (spot)Blood or TissueMolecular genetics

About this content

This page is prepared by HealthAssure's clinical team using official coding standards from LOINC. AI tools assist with drafting explanations, which are then reviewed and verified by healthcare professionals for accuracy. This content is for informational purposes and does not replace professional medical advice. Meet our team.