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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
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
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 | ||
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 daysPerforming 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 |