Primary Ciliary Dyskinesia Panel, Sequencing
Also known as: PCD NGS
Use
The Primary Ciliary Dyskinesia Panel, Sequencing is used to determine the etiology of primary ciliary dyskinesia in symptomatic individuals. Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a rare inherited condition resulting from defects in the structure or function of motile cilia. This condition can impact multiple body systems, causing symptoms such as neonatal respiratory distress, chronic oto-sinopulmonary disease, and infertility due to ciliary dysfunction. The test screens for pathogenic germline variants in genes associated with the structure and function of motile cilia, which can help in diagnosing PCD.
Special Instructions
The Primary Ciliary Dyskinesia/Heterotaxy Testing Patient History Form and Informed Consent for Genetic Testing are required for New York patients. Specimens from New York clients will be sent out to a New York state-approved laboratory as this test is not New York state approved.
Limitations
This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. It does not identify regulatory region variants, deep intronic variants, or deletions/duplications/insertions of any size. Technical limitations may exist due to pseudogenes, repetitive, or homologous regions, and the presence of low-level mosaic or somatic variants may not be detected. The test may be impacted if the patient has had an allogeneic stem cell transplantation.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B) tube
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |