ATRX pin



Alternate Test Names:
Alpha Thalassemia/Mental Retardation Syndrome X-Linked

Methodology: IHC

Clinical Significance:
The absence of expression of ATRX will be used to assist in the subclassification of gliomas.

Studies in the published literature have demonsrtrated that loss of expression of ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked) in grade II/III astrocytomas as determined by immunohistochemistry corresponds to the presence of ATRX mutations. Most ATRX-loss gliomas also have IDH1 mutations, and show overexpression of p53 with the presence of corresponding p53 mutations. Gliomas with ATRX loss almost never show 1p/19q co-deletion. The vast majority of grade II/III gliomas can be categorized into 3 molecular subtypes based on status of IDH1 mutation, ATRX immunohistochemistry, and 1p/19q co-deletion.

Subcellular Localization: nuclear

Organ: Brain/CNS

Disease State: Astrocytoma, Oligodendroglioma

CPT Code(s): 88342 or 88341

Turnaround Time: Within 1-2 business days of receipt

Schedule: Monday - Friday

Specimen Requirements:
• Formalin-fixed, paraffin-embedded (FFPE) tissue block or cell block - OR -
• 1 unstained slide for each test requested plus 3-4 additional unstained slides cut at 4µm

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