The ARX gene is associated with X-linked recessive early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).
Order this gene as a single gene test.
ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced in heterozygous females. Family variant testing in female individuals is available when there is a confirmed expansion in a male relative.
Invitae tests that include this gene:
Pathogenic variants in the ARX gene are associated with 5-8% of clinical cases of West and Ohtahara syndromes.
The ARX gene encodes a transcription factor that is essential for brain development in the embryo, particularly neural cell migration and differentiation (PMID: 20300201).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|
*ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced in heterozygous females. Family variant testing in female individuals is available when there is a confirmed expansion in a male relative.