Primary Ciliary Dyskinesia Panel
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000603734.3
- Last updated: 2024-05-15
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Primary ciliary dyskinesia
Offered by Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Primary Ciliary Dyskinesia Panel (PCDGG)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/Overview/617421#Specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- Other
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- Other
Establish or confirm diagnosis
- Primary Ciliary Dyskinesia. - PubMed ID: 20301301
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. - PubMed ID: 26418604
- Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. - PubMed ID: 28649564
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. - PubMed ID: 29905515
- https://www.ncbi.nlm.nih.gov/books/NBK1122
Predictive risk information for patient and/or family members
- Primary Ciliary Dyskinesia. - PubMed ID: 20301301
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. - PubMed ID: 26418604
- Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. - PubMed ID: 28649564
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. - PubMed ID: 29905515
- https://www.ncbi.nlm.nih.gov/books/NBK1122
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
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