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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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ARMC4

Alias

CILD23

Associated disorders

The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).

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ARMC4

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Invitae tests that include this gene:

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. Mutations 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 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
ARMC4 NM_018076.2