94227-6
LaboratoryAGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the AGXT gene. Additionally, gene dosage analysis, such as by multiplex ligation-dependent probe amplification (MLPA), is used to test for the presence of large deletions and duplications in this gene. This test is useful for confirming a diagnosis of primary hyperoxaluria type 1 (PH1) and for testing at-risk individuals with a family history of PH1 in the absence of known mutations in the family.
LOINC 6-Axis Classification
Component
AGXT gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
AGXT gene Del+Dup + Full Mut Anl Bld/T
Display Name
AGXT gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94227-6?
LOINC code 94227-6 identifies "AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the AGXT gene. Additionally, gene dosage analysis, such as by multiplex ligation-dependent probe amplification (MLPA), is used to test for the presence of large deletions and duplications in this gene. This test is useful for confirming a diagnosis of primary hyperoxaluria type 1 (PH1) and for testing at-risk individuals with a family history of PH1 in the absence of known mutations in the family.
What does 94227-6 measure?
This code measures AGXT gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.