Test Code: PNL220

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) (50 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
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.