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BRCAssure®: BRCA1 Targeted Analysis

Test Number 485066
Test number copied
CPT

81215

Test Details

Methodology

Next-generation sequencing: Genomic regions of interest are selected using a custom capture reagent for target enrichment and sequenced via the Illumina® next generation sequencing platform. Regions of interest include all exons and intron/exon junctions (+/-20 nucleotides) of the BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes. Sequencing reads are aligned with the human genome reference GRCh37/hg19 build. Minimum mean coverage is 40X. Any segment failing minimum read depth coverage is rescued by bi-directional Sanger sequencing to complete sequence analysis. Variants, including SNVs and CNVs, are identified using a custom bioinformatics pipeline.

Reported variants: Pathogenic and likely pathogenic variants and variants of uncertain significance (VUS) are reported. Non-deletion variants are specified using the numbering and nomenclature recommended by the Human Genome Variation Society (HGVS). Benign variants are not reported. Variant classification and confirmation are consistent with ACMG standards and guidelines.1,2 Detailed variant classification information is available upon request. A variant of uncertain significance (VUS) should not be used in clinical decision making; a VUS is classified based on inadequate or conflicting evidence regarding its pathogenicity or clinical relevance.

Result Turnaround Time

18 - 21 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

BRCAssure® Physician Brochure

BRCAssure® Patient Brochure

Clinical Questionnaire for Hereditary Cancer

BRCAssure® Technical Summary

Use

This test code is intended for those individuals who have a family member with a known BRCA1 variant and wished to be tested only for that variant. A copy of the positive family member's laboratory report or genetic counseling letter documenting the variant is required for this testing. Only the specific region of the BRCA1 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA1, BRCAssure®: BRCA1 and BRCA2 Deletion/Duplication Analysis [485050] should be ordered. If there is no family member with a known BRCA1 variant or if there is no documentation of the familial variant, BRCAssure®: BRCA1 and BRCA2 Comprehensive Analysis [485030] should be ordered. Please call 800-345-GENE (4343) for more information regarding documentation requirements or other questions.

Special Instructions

A BRCAssure® clinical questionnaire and documentation of the familial BRCA1 variant should be submitted with specimen specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing. To order Oragene Dx 500 saliva collection kits using PeopleSoft No. 87917, contact your local Labcorp branch supply department.

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements, gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants. Variant classification and/or interpretation may change with time if more information becomes available. False-positive or false-negative results may occur for reasons that include: genetic variants, pseudogene interference, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships. For heterozygous variants in the same gene, the assay cannot determine whether they are on the same or a different chromosome; to determine phase and clinical significance, rarely, parental testing may be required. Exact breakpoints of exon-level deletions/duplications are not determined. The presence of an inherited cancer syndrome due to a different genetic cause cannot be ruled out. Any interpretation should be clinically correlated with information about the patient's presentation and relevant family history.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Specimen Requirements

Specimen

Whole blood or saliva collected in an Oragene Dx collection kit

Volume

7 mL whole blood, 2.0 mL saliva

Minimum Volume

3 mL whole blood, 0.5 mL saliva

Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube or Oragene Dx 500 saliva collection kit

Stability Requirements

TemperaturePeriod
Room temperature

Whole blood: 14 days

Saliva: 60 days

RefrigeratedWhole blood: 30 days
FrozenDo not freeze

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen whole blood; serum; leaking tube; clotted blood; grossly hemolyzed specimen; incorrect anticoagulant; saliva collection in incorrect container.

Do not eat, drink, smoke, or chew gum 30 min prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

References

NCCN Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2020. Accessed at https://www.nccn.org/about/news/newsinfo.aspx?NewsID=1790.
Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. 1998 Sep 4 [updated 2016 Dec 15].20301425

Footnotes

1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424.25741868
2. Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Sep;15(9):733-747.23887774

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
485066 BRCAssure BRCA1 Targeted 21636-6 485067 SPECIMEN TYPE 31208-2
485066 BRCAssure BRCA1 Targeted 21636-6 485068 PREAUTHORIZATION N/A
485066 BRCAssure BRCA1 Targeted 21636-6 485069 CLINICAL INDICATION 42349-1
485066 BRCAssure BRCA1 Targeted 21636-6 485070 RESULTS 21636-6
485066 BRCAssure BRCA1 Targeted 21636-6 485071 INTERPRETATION 56850-1
485066 BRCAssure BRCA1 Targeted 21636-6 485072 ADDITIONAL CLINICAL INFORM. 55752-0
485066 BRCAssure BRCA1 Targeted 21636-6 485074 RECOMMENDATIONS 62385-0
485066 BRCAssure BRCA1 Targeted 21636-6 485073 COMMENTS 77202-0
485066 BRCAssure BRCA1 Targeted 21636-6 485075 METHODS AND LIMITATIONS 49549-9
485066 BRCAssure BRCA1 Targeted 21636-6 485076 REFERENCES 75608-0
485066 BRCAssure BRCA1 Targeted 21636-6 485077 RELEASED BY 72486-4
485066 BRCAssure BRCA1 Targeted 21636-6 485079 PDF 80563-0
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485067
Result Code NameSPECIMEN TYPE
UofM
Result LOINC31208-2
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485068
Result Code NamePREAUTHORIZATION
UofM
Result LOINCN/A
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485069
Result Code NameCLINICAL INDICATION
UofM
Result LOINC42349-1
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485070
Result Code NameRESULTS
UofM
Result LOINC21636-6
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485071
Result Code NameINTERPRETATION
UofM
Result LOINC56850-1
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485072
Result Code NameADDITIONAL CLINICAL INFORM.
UofM
Result LOINC55752-0
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485074
Result Code NameRECOMMENDATIONS
UofM
Result LOINC62385-0
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485073
Result Code NameCOMMENTS
UofM
Result LOINC77202-0
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485075
Result Code NameMETHODS AND LIMITATIONS
UofM
Result LOINC49549-9
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485076
Result Code NameREFERENCES
UofM
Result LOINC75608-0
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485077
Result Code NameRELEASED BY
UofM
Result LOINC72486-4
Order Code485066
Order Code NameBRCAssure BRCA1 Targeted
Order Loinc21636-6
Result Code485079
Result Code NamePDF
UofM
Result LOINC80563-0