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Test 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

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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