Primary Ciliary Dyskinesia Panel

Casandra

Casandra Test Code GE24219Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID 1073CPT Code 81479

Primary Ciliary Dyskinesia Panel

Clinical Use

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

Prior authorization is available but not required. New York–state clients require documentation of informed consent on the requisition or electronic order. A fibroblast culture (CULFB) may be performed at additional charge when indicated for skin biopsy/cultured fibroblasts.

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.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Sequence capture and targeted next‑generation sequencing followed by PCR and Sanger sequencing of PCD‑associated genes.

Mutation (39 genes)

ARMC4CCDC103CCDC114CCDC151CCDC39CCDC40CCDC65CCNOCFAP298CFAP300DNAAF1DNAAF2DNAAF3DNAAF4DNAAF5DNAH1DNAH11DNAH5DNAH8DNAH9DNAI1DNAI2DNAJB13DNAL1DRC1FOXJ1GAS8LRRC6MCIDASOFD1PIH1D3RPGRRSPH1RSPH3RSPH4ARSPH9SPAG1TTC25ZMYND10