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Specimen Collection Manual and Test Catalog

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BRCAPLUS

Geisinger Epic Procedure Code:  LAB5219    Geisinger Epic ID:  199078
Test Restriction:  ORDER LIMITED TO GENETICS AND HEMATOLOGY ONCOLOGY

SPECIMEN COLLECTION
Specimen type: 

Whole Blood, Buccal Swab, Saliva


Preferred collection container: 
Specimen required: 

3 mL whole blood, 2 mL for pediatrics; saliva or buccal swab


Patient preparation: 

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.



SPECIMEN PROCESSING
Processing instructions: 

Send whole blood, saliva or buccal swab


Transport temperature: 

Room Temperature


Specimen stability: 

Room temperature 7 days (Preferred). Refrigerated 7 days



TEST DETAILS
CPT code(s):  81435
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

Genes included on the BRCAplus test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. ?
Gross deletion/duplication analysis is performed for BRCAplus genes using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray.


Methodology: 
Deletion/Duplication Analysis
Multiplex Ligation-dependent Probe Amplification
Next Generation Sequencing with Microarray Confirmation
Synonyms: 

Ambry code 8836


Clinical significance: 

Identifying patients with a genetic predisposition to cancer can allow informed recommendations and personalized medical management that significantly decrease cancer risks.

  1. Option to modify frequency and initial age of mammogram and breast MRI
  2. Consideration of prophylactic mastectomy or other risk-reducing measures, as appropriate
  3. Option to tailor treatments (e.g. PARP inhibitors for BRCA1/BRCA2)
  4. Identify at-risk family members

Doctoral Director(s): 
Randin Nelson MD
Review Date:  02/26/2026

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