79164-0
LaboratoryCES1 gene c.428G>A [Presence] in Blood or Tissue by Molecular genetics method
Definition
The CES1 gene encodes carboxylesterase 1A1 (CES1A1), which is the key enzyme involved in the first-pass metabolism of methylphenidate (Ritalin). Presence of the CES1 Gly143Glu missense variant (c.428G>A, [NCBI dbSNP ID: rs71647871]) results in decreased CES1A1 activity, which may lead to a higher than expected plasma concentration of methylphenidate and increase the risk of side effects.
LOINC 6-Axis Classification
Component
CES1 gene.c.428G>A
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
CES1 c.428G>A Bld/T Ql
Display Name
CES1 gene c.428G>A Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 79164-0?
LOINC code 79164-0 identifies "CES1 gene c.428G>A [Presence] in Blood or Tissue by Molecular genetics method". The CES1 gene encodes carboxylesterase 1A1 (CES1A1), which is the key enzyme involved in the first-pass metabolism of methylphenidate (Ritalin). Presence of the CES1 Gly143Glu missense variant (c.428G>A, [NCBI dbSNP ID: rs71647871]) results in decreased CES1A1 activity, which may lead to a higher than expected plasma concentration of methylphenidate and increase the risk of side effects.
What does 79164-0 measure?
This code measures CES1 gene.c.428G>A 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.