Primary Ciliary Dyskinesia

Concurrent analysis of multiple genes associated with abnormal ciliary structure and function resulting in chronic otosinopulmonary disease, situs abnormalities, and reduced fertility. 

NY Approved

Test Overview

Clinical Utility

  • Identification of specific molecular basis of Primary Ciliary Dyskinesia
  • Genetic counseling and recurrence risk assessment
  • Carrier testing for unaffected family members

Test Details

Genes

ARMC4, C21orf59 [CFAP298], CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, DNAAF1, DNAAF2, DNAAF3, DNAAF5 [HEATR2], DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DRC1, DYX1C1 [DNAAF4], GAS8, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10.

Conditions

  • Heterotaxy
  • Primary Ciliary Dyskinesia

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TB46
CPT Codes*: 81479x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

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