Primary Ciliary Dyskinesia (PCD) Panel
Use
Primary ciliary dyskinesia (PCD) is a disorder affecting the lungs and other body systems, with an estimated prevalence affecting 25,000 Americans. Early diagnosis is crucial for maintaining well-being and mitigating long-term health issues. This genetic panel aids in the diagnosis by detecting mutations in genes known to be associated with PCD and related disorders, providing clarity on patient's condition and assisting in the management and treatment plans. Genetic results can guide medical decision-making and indicate potential implications for the patient's relatives through family variant testing.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients who undergo single gene sequencing, multigene panel testing, or exome sequencing at Ambry Genetics and are found to have pathogenic variants.
Limitations
While the Primary Ciliary Dyskinesia panel is designed to identify most detectable pathogenic and likely pathogenic variants in the tested genes, there may be variants that current technology cannot detect. Potential inaccuracies can arise from sample mix-ups or misinformation. Technological limitations might fail to detect some disease-causing DNA or protein changes. Standard laboratory limitations also exist, such as incomplete gene knowledge and potential uninterpretable findings.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
4-5 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided