Test ID: 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
Useful 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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 40 genes associated with primary ciliary dyskinesia (PCD): 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. See Targeted Genes and Methodology Details for Primary Ciliary Dyskinesia Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for PCD.
Prior Authorization is available for this assay.
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 |
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.
Clinical Reference
1. Shapiro AJ, Davis SD, Polineni D, et al. Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018;197(12):e24-e39. doi:10.1164/rccm.201805-0819ST
2.Shapiro AJ, Zariwala MA, Ferkol T, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016;51(2):115-132. doi:10.1002/ppul.23304
3. Zariwala MA, Knowles MR, Leigh MW. Primary ciliary dyskinesia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated December 5, 2019. Accessed August 1, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1122/
4. Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: An update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr. 2017;5:135. doi:10.3389/fped.2017.00135
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest 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 |
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