Associated disorders

The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 507267).

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The percentage of PCD attributed to pathogenic variants identified in ARMC4 is unknown.

The ARMC4 gene encodes an Armadillo repeat motif (ARM) protein that is important for the structure and function of motile cilia. Pathogenic variants in the AMRC4 gene cause outer dynein arm (ODA) defects and a marked reduction in motile ciliary beat frequency. Motile cilia in the lungs, nasal passageways and ear canals protection against bacterial infections by promoting mucosal clearance, and, in the young embryo, motile cilia establish left-right asymmetry of the developing organs. As a result, defects in motile cilia are associated with various respiratory complications and a complete reversal of abdominal-thoracic cavity, known as situs inversus totalis.

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
ARMC4 NM_018076.2