94223-5

LOINC 2.82

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

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

Definition

  • Full gene sequencing and deletion/duplication analysis of the PTEN gene is performed identify a causative mutation or large deletion/duplication associated with various cancers (lung, prostate, head & neck) and PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome.[GHR gene: PTEN]

Component

  • PTEN gene deletion+duplication & full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • 10q23del; Amplification; Bannayan-Zonana syndrome; Blood; BZS; CWS1; DEC; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GLM2; Heredity; Heritable; Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds; Inherited; MGC11227; MHAM; MMAC1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutated in multiple advanced cancers 1; Mutations; PCR; Phosphatase and tensin homolog; Point in time; PTEN1; Random; sequencing of entire coding region; TEP1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • 10q23del
  • Amplification
  • Bannayan-Zonana syndrome
  • Blood
  • BZS
  • CWS1
  • DEC
  • Del
  • Del+Dup
  • Del+Dup + Full Mut Anl
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • GLM2
  • Heredity
  • Heritable
  • Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds
  • Inherited
  • MGC11227
  • MHAM
  • MMAC1
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutated in multiple advanced cancers 1
  • Mutations
  • PCR
  • Phosphatase and tensin homolog
  • Point in time
  • PTEN gene deletion+duplication & full mutation analysis
  • PTEN1
  • Random
  • sequencing of entire coding region
  • TEP1

5 further terms