Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel
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.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided