AutoICD API

74780-8

Laboratory

CPT1A gene c.1436C>T [Presence] in DBS by Molecular genetics method

Definition

DNA analysis performed using an allelic discrimination assay for the P479L(c.1436C>T) sequence variant in the Carnitine Palmitoyl Transferase (CPT1a) gene.

LOINC 6-Axis Classification

Component

CPT1A gene.c.1436C>T

Property

PrThr

Time Aspect

Pt

System

Bld.dot

Scale Type

Ord

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

CPT1A c.1436C>T DBS Ql

Display Name

CPT1A gene c.1436C>T Molgen Ql (DBS)

Related Names

Bloodcarnitine palmitoyltransferase 1A (liver)CPT1CPT1A c.1436C&gtTCPT1-LDBSDried blood spotFilter paperFPGeneticsHeredityHeritableInheritedL-CPT1Molecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSOrdinalPCRPoint in timePRQLQualQualitativeRandomScreenT primeWBWhole blood

Frequently Asked Questions

What is LOINC code 74780-8?

LOINC code 74780-8 identifies "CPT1A gene c.1436C>T [Presence] in DBS by Molecular genetics method". DNA analysis performed using an allelic discrimination assay for the P479L(c.1436C>T) sequence variant in the Carnitine Palmitoyl Transferase (CPT1a) gene.

What does 74780-8 measure?

This code measures CPT1A gene.c.1436C>T in Bld.dot. 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.