Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel

Casandra

Casandra Test Code PG57225Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10411CPT Code 81479

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel

Clinical Use

Use

This test is designed for individuals with relevant clinical features who have a clinical or suspected diagnosis of Primary Ciliary Dyskinesia (PCD), including individuals with situs inversus, situs ambiguus, or other laterality defects. It is also applicable to term neonates requiring supplemental oxygen for respiratory distress. The panel helps in diagnosing disorders associated with immotile cilia, leading to various respiratory and reproductive issues due to impaired ciliary function.

Special Instructions

The test offers both Exome and Genome platforms for analysis, which can include exome-wide CNV analysis for an added cost. STAT testing options are available for a quicker turnaround time with an additional fee.

Limitations

Test limitations are inherent to the methodologies used, such as false negatives due to variant alleles not covered by NGS, and potential for missed large CNVs if not combined with CNV analysis. Additionally, not all variants in analyzed genes are clinically significant or actionable.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component uses Next-Generation Sequencing (NGS) technology combined with Copy Number Variation (CNV) analysis to evaluate 50 genes associated with Primary Ciliary Dyskinesia.

NGS with CNV analysis • CGP