LOINC display name : BRCA1 BRCA2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : BRCA1 BRCA2 gene deletion duplication and full mutation analysis in Blood or Tissue
by Molecular genetics method;
LOINC short name : BRCA1 BRCA2 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 BRCA1 and BRCA2
genes. Testing is diagnostic for hereditary breast and ovarian cancer and used to
identify a familial BRCA1 or BRCA2 mutation for future predictive testing in family
members.;
Has component