49215-7

LOINC 2.82

PKHD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

PKHD1 gene Mut Anl Bld/T

Component

  • PKHD1 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • ARPKD; Blood; FCYT; Fibrocystin gene; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive); Random; TIGM1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • ARPKD
  • Blood
  • FCYT
  • Fibrocystin gene
  • Genetics
  • Heredity
  • Heritable
  • Identity or presence
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • PCR
  • PKHD1 gene targeted mutation analysis
  • Point in time
  • Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)
  • Random
  • TIGM1
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue