Alternative Name
ATRX Gene Sequencing
Test Description

Bi-directional Sanger sequencing of ATRX is performed using PCR primers designed to target hotspot mutations in exons 8-10, 12-15, 17, 18, 21, 22, 26, 30-32, and 35.

Clinical Significance

This assay detects mutations in the gene ATRX, which encodes for a protein involved in chromatin remodeling and telomere biology. Mutations in ATRX have been reported in all types of cancers such as brain tumors. ATRX is mutated in 71% of grade II and III astrocytomas, 68% of oligoastrocytomas, and 57% of secondary glioblastoma. ATRX mutations in brain tumors are frequently detected with IDH1 and IDH2 mutations. The presence of these two mutations defines a specific subgroup of brain tumors that is important diagnostically. Patients with this molecularly characterized subtype have significantly longer survival. Mutations in ATRX have also been reported in 13% of MDS patients, 19% of pancreatic neuroendocrine tumors, 10% of endometrial tumors, 8% of colon cancers and 7% of lung cancers.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
  • 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.
  • Fresh tissue: 1 cm3 fresh tissue that is mostly tumor in RPMI.
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)*
Turnaround Time

14 days

Level of Service

*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.