AutoICD API

94201-1

Laboratory

GNPTAB gene full mutation analysis in Blood or Tissue by Sequencing

Definition

Full gene sequence analysis of the coding region of the GNPTAB gene is performed for molecular diagnosis or carrier status of mucolipidosis II alpha/beta and mucolipidosis III alpha/beta.[GHR gene: GNPTAB]

LOINC 6-Axis Classification

Component

GNPTAB 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

GNPTAB Full Mut Anl Bld/T Seq

Display Name

GNPTAB gene full mutation analysis Sequencing Doc (Bld/Tiss)

Related Names

BloodDocumentFindingFindingsfull gene sequencingFull Mut AnlGeneticsGNPTAHeredityHeritablehigh-throughput sequencingHTSICDInheritedMolecular pathologyMOLPATHMutMutationsN-acetylglucosamine-1-phosphate transferase subunits alpha and betaNext generation sequencingNGSPoint in timeRandomsequencing of entire coding regionTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94201-1?

LOINC code 94201-1 identifies "GNPTAB gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis of the coding region of the GNPTAB gene is performed for molecular diagnosis or carrier status of mucolipidosis II alpha/beta and mucolipidosis III alpha/beta.[GHR gene: GNPTAB]

What does 94201-1 measure?

This code measures GNPTAB 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.