Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel
Use
This test is intended for individuals with a clinical or suspected diagnosis of primary ciliary dyskinesia (PCD), those with situs inversus, situs ambiguus, or other laterality defects, as well as term neonates requiring supplemental oxygen for respiratory distress. The panel is designed to provide comprehensive genetic analysis for these conditions, which may assist healthcare providers in confirming a diagnosis, understanding disease etiology, and informing management and treatment decisions.
Special Instructions
The panel is available through Exome or Genome platforms and includes a comprehensive analysis of 51 genes known to be associated with PCD, immotile cilia syndrome, and cystic fibrosis. Special order options include exome-wide CNV analysis and STAT testing, useful for urgent cases requiring faster turnaround times.
Limitations
While this panel tests 51 genes, it may not detect all genetic variants associated with primary ciliary dyskinesia, immotile cilia syndrome, or cystic fibrosis. Some variants with unknown significance may be reported, and interpretative limitations exist if incomplete or no clinical information is provided. The accuracy of detection for insertions, deletions, or copy number variants may vary based on the genomic location and platform used.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided