ATRX Gene Test Cost & Procedure

ATRX is a Possible marker for classifying diffuse and primary glioblastomas relevant for survival and predicting IDH/H3F3A mutations. Such classification is crucial for subsequent clinical decision-making, particularly regarding the treatment options for diffuse gliomas. Astrocytic cancers with additional IDH1/2 and TP53 mutations are frequently found to have ATRX abnormalities. In a subgroup of IDH1 mutant tumours, missense and truncating modifications of the ATRX gene cause decreased glioma expression and correlated with better clinical outcomes.

Why is this examination suggested?

To find a potential genetic cause for a problem, diagnostic testing for this gene is advised. This type of testing can inform a symptomatic patient's prognosis and clinical care, or it can be used to screen healthy patients

ATRX is what?

ATRX is a gene that gives instructions for producing a protein crucial for healthy development. The ATRX protein may play a role in regulating the activity (expression) of other genes through a process known as chromatin remodelling, even if its precise function is uncertain. To adjust how tightly DNA is packaged, chromatin's structure can be modified. One mechanism for controlling gene expression throughout development is chromatin remodelling. Gene expression is lower when DNA is firmly packed than loosely packed. Two genes, HBA1 and HBA2, required for creating haemoglobin, appear to be regulated by the ATRX protein.

ATRX positive: What is it?

Strong nuclear positivity in instances was regarded as positive (retained) for the ATRX immunostain. It was believed that the complete disappearance of nuclear stain meant that ATRX expression had disappeared (mutated).

ATRX negative: what is it?

Patients with ATRX syndrome have dysfunctional regulation, which is linked to the phenotype of -thalassemia. ATRX is a negative regulator of macroH2A1 deposition at telomeres and -globin clusters.