94208-6
LaboratoryMLYCD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full gene sequence analysis of all coding regions and intron/exon boundaries of the MLYCD gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. Alterations in the MLYCD gene cause malonyl-coenzyme A decarboxylase (MCD) deficiency, a rare autosomal recessive inborn error of fatty acid metabolism.[GHR gene: MLYCD]
LOINC 6-Axis Classification
Component
MLYCD 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
MLYCD Del+Dup + Full Mut Anl Bld/T
Display Name
MLYCD gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94208-6?
LOINC code 94208-6 identifies "MLYCD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full gene sequence analysis of all coding regions and intron/exon boundaries of the MLYCD gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. Alterations in the MLYCD gene cause malonyl-coenzyme A decarboxylase (MCD) deficiency, a rare autosomal recessive inborn error of fatty acid metabolism.[GHR gene: MLYCD]
What does 94208-6 measure?
This code measures MLYCD 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.