81882-3

LOINC 2.82

TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

TSC2+PKD1 Del+Dup Bld/T MLPA

Definition

  • Detection of deletions or duplications in the TSC2 gene and the adjacent PKD1 gene in a DNA sample by multiplex ligation probe amplification (MLPA) for the diagnosis of tuberous sclerosis and TSC2/PKD1 contiguous gene syndrome. This term was created for, but not limited in use to, the submitter's kit, MRC Holland MLPA P046-C1 TSC2 probemix.

Component

  • TSC2 gene & PKD1 gene deletion+duplication

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • MLPA

Related names

  • Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LAM; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; PBP; Pc-1; Point in time; Polycystic kidney disease 1; polycystic kidney disease 1 (autosomal dominant); Polycystin-1 precursor; PPP1R160; Random; Tissue; Tissue, unspecified; TRPP1; TSC2+PKD1; TSC4; Tuberous sclerosis 2; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • LAM
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • PBP
  • Pc-1
  • Point in time
  • Polycystic kidney disease 1
  • polycystic kidney disease 1 (autosomal dominant)
  • Polycystin-1 precursor
  • PPP1R160
  • Random
  • Tissue
  • Tissue, unspecified
  • TRPP1
  • TSC2 gene & PKD1 gene deletion+duplication
  • TSC2+PKD1
  • TSC4
  • Tuberous sclerosis 2
  • WB
  • Whole blood
  • Whole blood or Tissue