LOINC display name : GRHPR gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : GRHPR gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : GRHPR Del Dup Full Mut Anl Bld/T;
LOINC description : Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing)
and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification)
to evaluate for mutations and large deletions/duplications in the GRHPR gene. Testing
is used to confirm a diagnosis of primary hyperoxaluria type 2 (PH2) and for carrier
testing for individuals with a family history of PH2 in the absence of known mutations
in the family.;
Has component