AutoICD API

94232-6

Laboratory

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

Definition

Full gene sequencing and deletion/duplication analysis of the FLCN (folliculin) gene is performed identify a causative mutation or large deletion/duplication associated with Birt-Hogg-Dube syndrome. Testing is used for clinical management, risk assessment for related clinical symptoms, and genetic counseling for family members.[GHR gene: FLCN]

LOINC 6-Axis Classification

Component

FLCN 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

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

Display Name

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

Related Names

AmplificationBHDBHD skin lesion fibrofolliculoma proteinBirt-Hogg-Dube syndrome proteinBloodDelDel+DupDel+Dup + Full Mut AnlDeletionsDKFZp547A118DocumentDpFindingFindingsFLCLFLJ45004FLJ99377Folliculinfull gene sequencingFull Mut AnlGeneticsHeredityHeritableInheritedMGC17998MGC23445Molecular geneticsMolecular pathologyMOLPATHMutMutationsPCRPoint in timeRandomsequencing of entire coding regionTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94232-6?

LOINC code 94232-6 identifies "FLCN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Full gene sequencing and deletion/duplication analysis of the FLCN (folliculin) gene is performed identify a causative mutation or large deletion/duplication associated with Birt-Hogg-Dube syndrome. Testing is used for clinical management, risk assessment for related clinical symptoms, and genetic counseling for family members.[GHR gene: FLCN]

What does 94232-6 measure?

This code measures FLCN 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.