ASMD; ASOD; CTPP4; CTRCT11; PTX3
The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).
Order this gene as a single gene test.
Invitae tests that include this gene:
The PITX3 gene encodes the paired like homeodomain 3 transcription factor protein that belongs to the RIEG/PITX homeobox family. This protein is involved in the development of the lens and is also expressed in skeletal muscle and dopaminergic neurons of the substantia nigra in the brain (PMID: 16477036).
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|