94232-6LOINC 2.82
FLCN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
FLCN gene Del+Dup + Full Mut Anl Bld/T
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]
Component
- FLCN gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; BHD; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; DKFZp547A118; Document; Dp; Finding; Findings; FLCL; FLJ45004; FLJ99377; Folliculin; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; MGC17998; MGC23445; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- BHD
- BHD skin lesion fibrofolliculoma protein
- Birt-Hogg-Dube syndrome protein
- Blood
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- DKFZp547A118
- Document
- Dp
- Finding
- Findings
- FLCL
- FLCN gene deletion+duplication & full mutation analysis
- FLJ45004
- FLJ99377
- Folliculin
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Inherited
- MGC17998
- MGC23445
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- PCR
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
1 further terms