Test Code: PNL220
Primary ciliary dyskinesia (50 Genes)
Multigene
Our Primary Ciliary Dyskinesia (PCD) 50‑gene panel provides a comprehensive molecular diagnostic tool for clinicians managing patients with suspected ciliary dysfunction. This targeted assay interrogates the most relevant genes implicated in PCD, enabling detection of pathogenic variants associated with impaired mucociliary clearance, chronic respiratory infections, and related syndromic features. By combining broad genetic coverage with high analytical sensitivity, the panel supports accurate diagnosis, informs patient management, and facilitates genetic counseling for affected families. Designed to align with current clinical guidelines, it offers clinicians a reliable resource for integrating precision medicine into respiratory and reproductive health care. This next-generation sequencing (NGS) panel examines germline variations in genes linked to these disorders, providing insights that may guide personalised treatment and preventive strategies.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
49 genes
CCDC40
DRC2
DNAAF19
CCNO
CENPF
CFAP57
CFTR
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH5
DNAH8
DNAH9
DNAH11
DNAI1
DNAI2
DNAJB13
DNAL1
DRC1
DRC4
HYDIN
INVS
LRRC56
LZTFL1
MCIDAS
NEK10
NME8
OFD1
RPGR
RSPH1
RSPH3
RSPH4A
RSPH9
SPAG1
STK36
ZMYND10
CCDC39
GAS2L2
ODAD2 (ARMC4)
ODAD1 (CCDC114)
ODAD3 (CCDC151)
CFAP298 (C21orf59)
CFAP300 (C11orf70)
DNAAF11 (LRRC6)
DNAAF6 (PIH1D3)
ODAD4 (TTC25)
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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