94195-5
LaboratoryCPT2 gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full sequence analysis of the CPT2 gene is performed to confirm a patient's diagnosis of carnitine palmitoyltransferase II deficiency, an autosomal recessive disorder of long-chain fatty-acid oxidation. Testing may also be performed for carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency but disease-causing mutations have not been identified in an affected individual.
LOINC 6-Axis Classification
Component
CPT2 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
CPT2 gene Full Mut Anl Bld/T Seq
Display Name
CPT2 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94195-5?
LOINC code 94195-5 identifies "CPT2 gene full mutation analysis in Blood or Tissue by Sequencing". Full sequence analysis of the CPT2 gene is performed to confirm a patient's diagnosis of carnitine palmitoyltransferase II deficiency, an autosomal recessive disorder of long-chain fatty-acid oxidation. Testing may also be performed for carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency but disease-causing mutations have not been identified in an affected individual.
What does 94195-5 measure?
This code measures CPT2 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.