Primary Ciliary Dyskinesia Panel
Use
Genetic evaluation of individuals suspected to have primary ciliary dyskinesia (PCD), a motile ciliary disorder notable for chronic respiratory disease, neonatal respiratory distress, laterality defects (e.g., situs inversus, Kartagener syndrome), and infertility. Identification of pathogenic variants supports diagnosis, prognosis, management, familial screening, and genetic counseling.
Special Instructions
Not provided.
Limitations
This test was developed and validated by Mayo Clinic consistent with CLIA requirements and has not been cleared or approved by the FDA. Reflex testing (e.g. fibroblast culture) adds time and cost. Saliva specimens may yield lower quality/quantity DNA, potentially limiting coverage in some gene regions. Cultured fibroblast and certain tissue types require timely collection (within ~24 hours). DNA inadequacy may lead to cancellation or additional sample requests.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD) tube; acceptable: green top (Sodium heparin)
Collection Instructions
Invert to mix; send whole blood in original tube; do not aliquot
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |
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