94206-0
LaboratoryMMACHC gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR gene: MMACHC]
LOINC 6-Axis Classification
Component
MMACHC gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
MMACHC Full Mut Anl Bld/T Seq
Display Name
MMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94206-0?
LOINC code 94206-0 identifies "MMACHC gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR gene: MMACHC]
What does 94206-0 measure?
This code measures MMACHC gene 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.