73736-1
LaboratoryACADVL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Definition
Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ACADVL gene.
LOINC 6-Axis Classification
Component
ACADVL gene mutation analysis limited to known familial mutations
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
ACADVL Fam Mut Anl Bld/T
Display Name
ACADVL gene familial mut analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 73736-1?
LOINC code 73736-1 identifies "ACADVL gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method". Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ACADVL gene.
What does 73736-1 measure?
This code measures ACADVL gene mutation analysis limited to known familial mutations in Bld/Tiss. It belongs to the MOLPATH.MUT 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.