Associated disorders

The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).

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Invitae tests that include this gene:

An unknown proportion of cases of atrial fibrillation and DCM are caused by pathogenic NPPA variants.

The NPPA gene encodes atrial natriuretic peptides (ANP), which are implicated in the control of extracellular fluid volume and electrolyte homeostasis. ANP plays an important function in cardiac electrophysiology by modulating the autonomic nervous system and regulating the function of cardiac ion channels. This protein is synthesized in the atria as a large precursor, which is processed to release a form of a vasoactive peptide and another peptide with natriuretic-diuretic activity.

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
NPPA NM_006172.3