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HelpTest Code PCDGG Primary Ciliary Dyskinesia Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Primary Ciliary Dyskinesia Genetic Testing Patient Information
3. Primary Ciliary Dyskinesia Gene Panel (PCDGG) Prior Authorization Ordering Instructions
Secondary ID
617421Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia
Establishing a diagnosis of primary ciliary dyskinesia
Special Instructions
- Informed Consent for Genetic Testing
- Informed Consent for Genetic Testing (Spanish)
- Primary Ciliary Dyskinesia Genetic Testing Patient Information
- Targeted Genes and Methodology Details for Primary Ciliary Dyskinesia Gene Panel
- Primary Ciliary Dyskinesia Gene Panel (PCDGG) Prior Authorization Ordering Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Primary Ciliary Dyskinesia PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Primary ciliary dyskinesia (PCD) is a condition characterized by motile ciliary dysfunction due to structural or biogenesis defects of the cilia.(1,2) The primary clinical manifestation of PCD is chronic upper and lower respiratory disease (including neonatal respiratory distress, chronic cough, chronic nasal congestion, chronic pansinusitis, recurrent pulmonary infections, and bronchiectasis) leading to respiratory failure.(1-3) Other common features of PCD include laterality (situs) defects and infertility.(1-3) When laterality defects are present in addition to respiratory manifestations, the condition may be described as Kartagener syndrome.(4)
Diagnostic workup for suspected PCD can include ciliary ultrastructure analysis via transmission electron microscopy, high-speed video microscopy with ciliary beat pattern analysis, nasal nitric oxide level measurement, immunofluorescence imaging of axonemal proteins, and molecular genetic testing.(1,2) Genetic testing can be diagnostic when other analyses have normal or ambiguous results.(2)
The prevalence of PCD is not established and estimates of prevalence have ranged from 1:2200 to 1:40,000 births.(4) In individuals with well-supported PCD diagnoses via clinical and ciliary analyses, it is estimate that a genetic etiology can be identified in up to 80% of cases.(3) In most cases, PCD follows an autosomal recessive pattern of inheritance. Rarely, PCD can follow an autosomal dominant or X-linked pattern of inheritance.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletion-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Primary Ciliary Dyskinesia Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed: ARMC4 (ODAD2), CCDC103, CCDC114 (ODAD1), CCDC151 (ODAD3), CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS8, LRRC6 (DNAAF11), MCIDAS, OFD1, PIH1D3 (DNAAF6), RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25 (ODAD4), and ZMYND10
Day(s) Performed
Varies
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PCDGG | Primary Ciliary Dyskinesia Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617422 | Test Description | 62364-5 |
| 617423 | Specimen | 31208-2 |
| 617424 | Source | 31208-2 |
| 617425 | Result Summary | 50397-9 |
| 617426 | Result | 82939-0 |
| 617427 | Interpretation | 69047-9 |
| 617428 | Additional Results | 82939-0 |
| 617429 | Resources | 99622-3 |
| 617430 | Additional Information | 48767-8 |
| 617431 | Method | 85069-3 |
| 617432 | Genes Analyzed | 48018-6 |
| 617433 | Disclaimer | 62364-5 |
| 617434 | Released By | 18771-6 |