Lab Test

Test Definition Number : 59
Test Definition Name : BRCA1 sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1176
Lab Test Name : BRCA1 and BRCA2 Sequencing and Del/Dup
Status : Active
Expired : No
Updated : 2018-01-27 22:17 EST

General Attributes

Chromosome Band : 17q21.31
HUGO Gene Name : [BRCA1] breast cancer 1, early onset
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Microarray - Other
Sequencing - Next Generation (Massively Parallel) (NGS)
Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
ICD-10 Code :
Use :
Genetics Category : Germline (inherited)
SNOMED CT :
LOINC :
Comments : Background: Hereditary breast and ovarian cancer (HBOC) due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer and occurs in all ethnic and racial populations and mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The overall prevalence of BRCA1/2 mutations is estimated to be from 1 in 400 to 1 in 800 with a higher prevalence in the Ashkenazi Jewish population (1 in 40). Estimates of penetrance have been shown to vary within families with the same BRCA1/2 mutation (Petrucelli et al, 2010). The results from genetic tests can facilitate assessment of levels of risk for patients and lead to more efficient and appropriate medical management. It is recommended that this testing be accompanied by a complete family history and genetic counseling. Methodology: Component 1: Sequencing Analysis – Next generation sequencing will analyze the exons or coding regions of the genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Any gaps in coverage in clinically validated genes are completed with traditional Sanger sequencing such that 100% of the coding region of the above genes are covered at 10x coverage or more. Promoter, intronic, etc. regions are not assessed here but may contain variants that impact gene function. Component 2: Deletion/Duplication Analysis – A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of the medically relevant genes. The arrays will be run using Agilent SureScan technology. This array is an ideal complement to the next generation sequencing approach to provide a comprehensive mutation spectrum analysis for inherited cancer.
Specimen Transport Requirements : 5-10mL Blood (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes

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