BRCA1+BRCA2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

BRCA1+BRCA2 Del+Dup + Full Mut Anl Bld/T

Definition

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.

Amplification; Ashkenazi jewish workup; Blood; BRCA; BRCC2; Breast cancer 2, early onset; BROVCA2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; FACD; FAD; FAD1; FANCB; FANCD; FANCD1; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GLM3; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PNCA2; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; XRCC11

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