Associated disorders

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).

The percentage of congenital heart disease attributed to pathogenic variants identified in the GATA6 gene is unknown.

The GATA6 gene encodes a transcription factor required throughout development for the proper differentiation of embryonic tissues into adult tissues and structures. It interacts with a related transcription factor, GATA4, and is expressed primarily in the cardiovascular system and gonads.

Assay and technical information

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
GATA6 NM_005257.5