Primary Ciliary Dyskinesia Panel, Sequencing

Casandra

Casandra Test Code AR06536Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001621CPT Code 81479

Primary Ciliary Dyskinesia Panel, Sequencing

Also known as: PCD NGS

Clinical Use

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Use

The Primary Ciliary Dyskinesia Panel, Sequencing is used to determine the etiology of primary ciliary dyskinesia in symptomatic individuals. Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a rare inherited condition resulting from defects in the structure or function of motile cilia. This condition can impact multiple body systems, causing symptoms such as neonatal respiratory distress, chronic oto-sinopulmonary disease, and infertility due to ciliary dysfunction. The test screens for pathogenic germline variants in genes associated with the structure and function of motile cilia, which can help in diagnosing PCD.

Special Instructions

The Primary Ciliary Dyskinesia/Heterotaxy Testing Patient History Form and Informed Consent for Genetic Testing are required for New York patients. Specimens from New York clients will be sent out to a New York state-approved laboratory as this test is not New York state approved.

Limitations

This test detects variants within the coding regions and intron-exon boundaries of the targeted genes. It does not identify regulatory region variants, deep intronic variants, or deletions/duplications/insertions of any size. Technical limitations may exist due to pseudogenes, repetitive, or homologous regions, and the presence of low-level mosaic or somatic variants may not be detected. The test may be impacted if the patient has had an allogeneic stem cell transplantation.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (32 genes)

ARMC4CCDC103CCDC114CCDC151CCDC39CCDC40CCDC65CCNOCFAP298DNAAF1DNAAF2DNAAF3DNAAF4DNAAF5DNAH1DNAH11DNAH5DNAI1DNAI2DNAL1DRC1GAS8LRRC6MCIDASNME8PIH1D3RSPH1RSPH3RSPH4ARSPH9SPAG1ZMYND10