BRACAnalysis CDx™ - Clinical Genetic Test - GTR

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BRACAnalysis CDx™

Clinical Genetic Test

offered by

Myriad Genetics, Inc.

View lab's test page

GTR Test Accession: GTR000603546.1

NYS CLEP

CANCERINHERITED DISEASEBREAST DISORDERS ... View more

Last updated in GTR: 2022-11-18

Last annual review date for the lab: 2023-12-27

At a Glance

Test purpose:

Drug Response; Therapeutic management

Conditions (6):

Pancreatic cancer, adult; Breast neoplasm; Neoplasm of ovary; ...

Genes (2):

BRCA1 (17q21.31), BRCA2 (13q13.1)

Methods (2):

Molecular Genetics - Deletion/duplication analysis: Quantitative PCR; ...

Target population:

Ovarian cancer and metastatic breast cancer patients being considered for …

Clinical validity:

Not provided

Clinical utility:

Guidance for selecting a drug therapy and/or dose

Ordering Information

Offered by:

Myriad Genetics, Inc.
View lab's website
View lab's test page

Specimen Source:

Peripheral (whole) blood
View specimen requirements

Who can order:

Nurse Practitioner
Physician Assistant
Health Care Provider
Licensed Physician
Registered Nurse
Genetic Counselor

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings

Test development:

FDA-reviewed (has FDA test name)

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test Order Code, Lab contact for this test, Test strategy

Conditions

Total conditions: 6

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 2

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 2

Method Category

Test method

Instrument

Deletion/duplication analysis

Quantitative PCR

Mutation scanning of the entire coding region

Bi-directional Sanger Sequence Analysis

Applied Biosystems 3730 capillary sequencing instrument

Clinical Information

Test purpose:

Drug Response; Therapeutic management

Clinical utility:

Guidance for selecting a drug therapy and/or dose

View citations (3)

https://myriad-oncology.com/bracanalysiscdx/
https://myriad-oncology.com/bracanalysiscdx/
https://s3.amazonaws.com/myriad-web/BRACAnalysisCDxTS.pdf

Target population:

Ovarian cancer and metastatic breast cancer patients being considered for treatment with Lynparza™ (olaparib).

View citations (2)

Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361(2):123-34. doi:10.1056/NEJMoa0900212. Epub 2009 Jun 24. PMID: 19553641.
Applying synthetic lethality for the selective targeting of cancer. McLornan DP, et al. N Engl J Med. 2014;371(18):1725-35. doi:10.1056/NEJMra1407390. PMID: 25354106.

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Classifications are determined by committee decision. The variant classification protocols and databases for BRACAnalysis CDx are regulated by the FDA as part of the companion diagnostic device.

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes. Amended reports are sent to ordering/recieving provider at the time of reclassification.

Recommended fields not provided:

Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Comments:

Previousy registered in GTR as GTR000521311

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Performance Characteristics 1. Accuracy a. BRACAnalysis CDx™ Sanger Sequencing Test Accuracy BRACAnalysis CDx™ Technical Information https://myriad-library.s3.amazonaws.com/technical-specifications/BRACAnalysis_CDx_Tech_Specs.pdf The accuracy of the BRACAnalysis CDx™ Sanger Sequencing assay was evaluated in this study by comparing its sequencing results with those of a validated NGS assay on a set of 100 blinded, patient blood-derived … Performance Characteristics 1. Accuracy a. BRACAnalysis CDx™ Sanger Sequencing Test Accuracy BRACAnalysis CDx™ Technical Information https://myriad-library.s3.amazonaws.com/technical-specifications/BRACAnalysis_CDx_Tech_Specs.pdf The accuracy of the BRACAnalysis CDx™ Sanger Sequencing assay was evaluated in this study by comparing its sequencing results with those of a validated NGS assay on a set of 100 blinded, patient blood-derived DNA samples. After variant and non-variant calls (relative to wild-type sequences) were made for each test, the results were compared. From the set of samples tested, a total of 796 variant bases (representing 790 variants) and 1,732,907 non-variant bases were identified by the NGS-based test. For each sample tested with the BRACAnalysis CDx™ Sanger Sequencing test, successful calls were made for all amplicons that are part of the assay, and the no call rate was 0%. All variant and non-variant base calls between the two tests were concordant. The agreement analysis between the results from both tests demonstrated a positive percent agreement (PPA), negative percent agreement (NPA), and overall agreement of 100%. The lower bounds of the 95% confidence intervals for PPA and NPA were 99.62% and 99.99%, respectively, which met the pre-specified acceptance criteria for the study. Overall, these results demonstrate that results from the BRACAnalysis CDx™ Sanger Sequencing assay are highly concordant with those from a validated NGS assay. b. BART® CDx Test Accuracy The accuracy of the BRACAnalysis CDx™ Large Rearrangement (BART® CDx) assay was evaluated in this study by comparing its large rearrangement results with those of a validated microarray assayon a set of 100 blinded, blood-derived DNA samples. Accuracy of the results from the BART®CDx test was demonstrated by comparison against the positive and negative calls from the microarray test. Based on the microarray results, 26 samples were positive for a large rearrangement in BRCA genes, and 74 samples were negative. For the BART®CDx test, 95 samples yielded valid results and 5 samples yielded results requiring further investigation. Among the 95 samples with callable results, 94 samples had results that matched those from the microarray assay, while one did not. The miscalled, or discordant, variant was identified as a multi-exon duplication by the BART®CDx test and a multi-exon triplication by the microarray test. Although both tests detected an increase in dosage of the same region, the BART test is not designed to differentiate between duplications and triplications, and therefore, this is a limitation of the BART®CDx test. Overall, the results demonstrate that the BART®CDx test generates results that are highly concordant with the results from a validated microarray assay, for the detection of BRCA1 and BRCA2 large rearrangements. View more

View citations (1)

https://s3.amazonaws.com/myriad-web/BRACAnalysisCDxTS.pdf

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Intra-Laboratory

PT Provider:
Internal proficiency test scheme

Description of PT method:
Internal proficiency test scheme.

VUS:

Software used to interpret novel variations
In house developed analytical tools, all of which are regulated by the FDA.

Laboratory's policy on reporting novel variations
All non-polymophism variations are reported.

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: IVD - In Vitro Device.

FDA Review of (Item reviewed): Assay(s)

FDA Regulatory Status: FDA cleared/approved

Application number: P140020 S009

Category: IVD - In Vitro Device.

FDA Review of (Item reviewed): Assay(s)

FDA Regulatory Status: FDA cleared/approved

Application number: P140020 S012

NYS CLEP Approval:

Number: 5414
Status: Approved

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.