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Alternative Name
AR Mutation Analysis
Methodology
Molecular
Test Description

Bi-directional Sanger sequencing of the gene Androgen Receptor is performed using PCR primers designed to target hotspot mutations in exons 4, 5 and 8.

Clinical Significance

Androgen receptor (AR) is a ligand-dependent transcription factor that plays a critical role in the development and progression of prostate cancer. Hormone therapies, such as Androgen deprivation therapy (ADT), can prevent and/or block the production of AR that directly impacts cancer growth. However, mutations that occur within the AR gene as well as expression of alternatively-spliced AR variants can promote hormone therapy resistance, especially in castration-resistant prostate cancer (CRPC) patients. Since mutations are known to occur most frequently within the ligand binding domain (LBD) of AR, which exons 4, 5, and 8 encode for, this test aids in predicting hormone therapy resistance in patients with prostate cancer and CRPC. AR mutation analysis testing is recommended along with PTEN deletion testing by FISH for evaluating prognosis. Mutation analysis of the full AR coding sequence is available as a part of our NeoTYPE Discovery Profile.

Specimen Requirements
  • FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.

CPT Code(s)*
81204
New York Approved
No
Level of Service
Global
Turnaround Time

14 days

References
  1. Tan MH, Li J, Xu HE, Melcher K, Yong EL. Androgen receptor: structure, role in prostate cancer and drug discovery. Acta Pharmacol Sin. 2015;36(1):3-23. doi:10.1038/aps.2014.18
  2. Brooke GN, Bevan CL. The role of androgen receptor mutations in prostate cancer progression. Curr Genomics. 2009;10(1):18-25. doi:10.2174/138920209787581307
  3. Jernberg E, Bergh A, Wikström P. Clinical relevance of androgen receptor alterations in prostate cancer. Endocr Connect. 2017;6(8):R146-R161. doi:10.1530/EC-17-0118

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.