LifeLabs Genetics performs BRCA 1/2 testing basically in the same way as other types of hereditary conditions testing. We offer the following for BRCA1/2 analysis:

• Next generation sequencing (NGS): sensitivity >98.5%, specificity >98.2%, 100% coverage >20x
• Deletion/duplication via MLPA: sensitivity 99.9% and specificity 99.8%
• Sanger sequencing and familial mutation testing also available

Genetic testing is often compared to visiting a bookstore or a library. Perhaps that comparison may shed light on which type of BRCA 1/2 test to order:

• Sequencing looks at the entire gene, from beginning to end, to identify obvious and more subtle genetic mutations or variations. If a gene were a chapter in a book, sequencing could reveal a previously undetected, single-letter spelling mistake.
• Deletion/duplication, or multiplex ligation-dependent probe amplification (MLPA), looks for “larger pieces” of missing genetic information or extra, duplicated portions of the gene. If a gene were a book chapter, deletion/duplication testing could find the missing paragraph or pages. Deletion/duplication testing could also flag where a paragraph has been erroneously added multiple times to a book.
• Family mutation testing uses previously identified genetic mutations and familial hereditary patterns to pinpoint and examine a precise spot on a person’s genome. Family mutation testing confirms or rules out whether you have the same variation on the same gene as a family member. So, when comparing a gene to a book chapter, family mutation testing could find a specific quotation within the book. This type of testing is quite quick because you know exactly where in the book to look and do not have to read the whole chapter.

Genetic sequencing and deletion/duplication testing are normally ordered together for the most complete results.

Please speak with your physician and/or contact us if you have any questions about what to order.