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Primary Ciliary Dyskinesia

New York
Approved


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

Clinical Utility

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.