Invitae Primary Ciliary Dyskinesia Panel
Use
Genetic testing for genes associated with primary ciliary dyskinesia (PCD) and cystic fibrosis, which result in respiratory diseases like tract infections, neonatal respiratory distress, and other lung complications. Manifestations may include situs inversus, abnormal sperm motility, and congenital absence of the vas deferens leading to male infertility. Ideal for individuals with clinical indications like chronic cough, rhinosinusitis, otitis media, and bronchiectasis.
Special Instructions
Contact client services for questions. Customize test by selecting genes to remove.
Limitations
>99% sensitivity and specificity for variants <15bp. May not detect structural rearrangements like inversions or phasing. Single-exon events may occasionally be missed. Sequence changes in promoter and non-coding regions not guaranteed unless specified. Analysis reflects extracted genomic DNA; rare external factors could affect representativeness of patient’s genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)