BRCA1, Single Site Analysis


Sunquest Code:BRCO1  
Epic Code:LAB6947Epic Name:Hereditary Cancer BRCA1 Single Site
Synonyms:BRCA1 Known Mutation; Familial; Level 2; Hereditary; Breast; BRCA1 Analysis, Known Mutation, Site-Specific; Hereditary Breast and Ovarian Cancer Syndrome; HBOC
Methodology:Sanger sequencing for known mutation, deletion or duplication of the gene, qPCR testing (if necessary).
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Testing is performed Mon-Fri; results are reported in 4 weeks.
Special Instructions:The gene and the known familial mutation should be indicated in the comment section of EPIC order. The affected family member's initials and medical record number should be indicated in the order. If the affected family member was not originally tested at the Molecular Diagnostics Laboratory, contact the lab at 612-273-8445 to verify feasibility of the test.
A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Bone Marrow Transplant patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

Genetic Testing Consent Form, MD Hereditary Order Instructions



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Sample collected from bone marrow transplant recipient., Samples tested in hematology using automated instrumentation not accepted. DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:By report.
Use:This assay is useful for molecular confirmation of the known familial mutation for Hereditary Breast and Ovarian Cancer Syndrome (HBOC). This assay utilizes a Sanger sequencing platform. This platform is more cost-effective and timely than next generation sequencing (NGS) for targeted sequencing of known familial mutations. Genomic DNA is extracted from the sample, and forward and reverse primers specific to each identified gene sequence variant (mutation) are designed. All assay set ups for targeted testing will include utilizing the proband with the known familial mutation as a positive control. All primer pairs are designed with an embedded M13 universal primer complementary sequence. The sequence containing the target mutation is amplified by polymerase chain reaction (PCR) and then size frationated by electrophoresis in an agarose gel. The region containing the PRC product band is then exised from the gel and purified. The purified amplicons are subjected to chain-termination sequencing with fluorescently-tagged dideoxynucleotides. (BigDye® Terminator v3.1) and M13 universal primers. Subsequent capillary electrophoresis allows size fractionation and detection of fluorescently tagged amplicons. Sequencing data is analyzed by Mutation Surveyor software program.


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