Ordering Recommendation

Use to determine etiology of primary ciliary dyskinesia in symptomatic individuals.

Mnemonic

PCD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ARMC4*, CCDC103*, CCDC114*, CCDC151, CCDC39, CCDC40*, CCDC65, CCNO, CFAP298*, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5*, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2*, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1*, ZMYND10
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.

Hotline History

N/A

CPT Codes

81479

Components

Component Test Code* Component Chart Name LOINC
3001622 Primary Ciliary Dyskinesia Interp
3001690 Primary Ciliary Dyskinesia Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Kartagener syndrome
Primary Ciliary Dyskinesia Panel, Sequencing