Primary Ciliary Dyskinesia Gene Panel, Varies
Use
The test provides a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia (PCD), assisting in the diagnosis, prognosis, and clinical management of PCD. It also offers insights for familial screening and genetic counseling by identifying disease-causing variants.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may fail to detect all genomic variants, with possible false-negative or false-positive results. There are regions of genes that cannot be evaluated due to technical limitations like homology and GC content. Deletions and duplications extending past tested genes may not be detected. The test isn't designed to detect low mosaicism or differentiate somatic and germline variants.
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
- 18771-6 - Provider signing name
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); acceptable: green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send in original tube. Do not aliquot. Whole blood collected postnatally from umbilical cord is acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |