AutoICD API

94212-8

Laboratory

PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

Definition

Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.

LOINC 6-Axis Classification

Component

PKLR gene deletion+duplication & full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH

Order/Observation

Both

Short Name

PKLR gene Del+Dup + Full Mut Anl Bld/T

Display Name

PKLR gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)

Related Names

AmplificationBloodDelDel+DupDel+Dup + Full Mut AnlDeletionsDocumentDpFindingFindingsfull gene sequencingFull Mut AnlGeneticsHeredityHeritableInheritedMolecular geneticsMolecular pathologyMOLPATHMutMutationsPCRPK1PKLPKRPKRLPoint in timePyruvate kinase 1 genePyruvate kinase isozymes R/L genepyruvate kinase, liver and RBCPyruvate kinase, liver and RBC geneRandomRed cell/liver pyruvate kinase geneRPKR-type/L-type pyruvate kinase genesequencing of entire coding regionTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94212-8?

LOINC code 94212-8 identifies "PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.

What does 94212-8 measure?

This code measures PKLR gene deletion+duplication & 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.