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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 Panel

Specimen Type

Varies

Specimen 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 days

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
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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