CILD11; RSHL3; RSPH6B; dJ412I7.1
The RSPH4A gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 390741).
Order this gene as a single gene test.
Invitae tests that include this gene:
The percentage of PCD attributed to pathogenic variants identified in RSPH4A is unknown.
Ciliary movement protects the lungs, sinuses and ear canals from recurrent infections by clearing mucus, dirt and bacteria out of the respiratory tract. Motile cilia consist of nine peripheral microtubule doublets encircling two central microtubules. Inner and outer dynein arms attached at regular intervals along the peripheral microtubules and radial spokes linking the peripheral and central microtubules act as molecular motors to generate planar movement. The RSPH4A gene encodes a protein component of the radial spoke head apparatus. Mutations in this gene lead to dysfunctional motile cilia with occasional central pair microtubule defects (PMID: 25826585).
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|