PKHD1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF
PKHD1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:SequencingLOINC code
Preferred Label : PKHD1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;
LOINC status : ACTIVE;
LOINC display name : PKHD1 gene full mutation analysis Sequencing Doc (Bld/Tiss);
LOINC long common name : PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing;
LOINC short name : PKHD1 gene Full Mut Anl Bld/T Seq;
LOINC description : Full gene sequence analysis to evaluate for mutations in the PKHD1 gene in patient's
suspected of having autosomal recessive polycystic kidney disease (ARPKD). Testing
may also be performed on at-risk individuals with a family history of ARPKD but an
affected individual is not available for testing or disease-causing mutations have
not been identified.;