BRCAssure®: BRCA2 Targeted Analysis

TEST: 485081
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CPT: 81217
Updated on 06/25/2024
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Special Instructions

A BRCAssure® clinical questionnaire and documentation of the familial BRCA2 variant should be submitted with 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.

A BRCAssure® clinical questionnaire and documentation of the familial BRCA2 variant should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.

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A BRCAssure® clinical questionnaire and documentation of the familial BRCA2 variant should be submitted with 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.

Expected 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

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

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 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

Test Details

Use

This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, 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 800-345-4363 for more information regarding documentation requirements or other questions.

This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, 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 800-345-4363 for more information regarding documentation requirements or other questions.

This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, 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 800-345-4363 for more information regarding documentation requirements or other questions.

This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, 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 800-345-4363 for more information regarding documentation requirements or other questions.

This test is intended for those individuals who have a family member with a known BRCA2 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 BRCA2 gene containing the familial variant will be tested. If the familial variant is a large deletion or duplication of BRCA2, 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 800-345-4363 for more information regarding documentation requirements or other questions.

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.

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.

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.

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.

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.

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.

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

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
485081 BRCAssure BRCA2 Targeted 485082 SPECIMEN TYPE 31208-2
485081 BRCAssure BRCA2 Targeted 485083 PREAUTHORIZATION N/A
485081 BRCAssure BRCA2 Targeted 485084 CLINICAL INDICATION 42349-1
485081 BRCAssure BRCA2 Targeted 485085 RESULTS 38530-2
485081 BRCAssure BRCA2 Targeted 485087 INTERPRETATION 56850-1
485081 BRCAssure BRCA2 Targeted 485088 ADDITIONAL CLINICAL INFORM. 55752-0
485081 BRCAssure BRCA2 Targeted 485090 RECOMMENDATIONS 62385-0
485081 BRCAssure BRCA2 Targeted 485089 COMMENTS 77202-0
485081 BRCAssure BRCA2 Targeted 485091 METHODS AND LIMITATIONS 49549-9
485081 BRCAssure BRCA2 Targeted 485092 REFERENCES 75608-0
485081 BRCAssure BRCA2 Targeted 485093 RELEASED BY 72486-4
485081 BRCAssure BRCA2 Targeted 485095 PDF 80563-0

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