" /> PKHD1 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF





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.;

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31/07/2025


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