94229-2
LaboratoryMECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the MECP2 gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. This test is used for diagnosing Rett syndrome or other methyl-CpG-binding protein 2 (MeCP2)-related disorders.[GHR gene: MECP2]
LOINC 6-Axis Classification
Component
MECP2 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
MECP2 gene Del+Dup + Full Mut Anl Bld/T
Display Name
MECP2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94229-2?
LOINC code 94229-2 identifies "MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the MECP2 gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. This test is used for diagnosing Rett syndrome or other methyl-CpG-binding protein 2 (MeCP2)-related disorders.[GHR gene: MECP2]
What does 94229-2 measure?
This code measures MECP2 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.