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HelpTest Code PRKSG PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Ordering Guidance
Testing for the PRKAR1A gene as part of a customized panel is available. For more information 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 variants identified in the PRKAR1A gene. 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. PRKAR1A-Related Disorders Patient Information (T820)
3. PRKAR1A Full Gene Analysis (PRKSG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance
Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in one gene associated with Carney Complex (CNC): PRKAR1A. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for CNC.
Prior Authorization is available for this assay.
Special Instructions
Reporting Name
PRKAR1A Full Gene AnalysisSpecimen Type
VariesSpecimen 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.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PRKSG | PRKAR1A Full Gene Analysis | 94214-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617436 | Test Description | 62364-5 |
| 617437 | Specimen | 31208-2 |
| 617438 | Source | 31208-2 |
| 617439 | Result Summary | 50397-9 |
| 617440 | Result | 82939-0 |
| 617441 | Interpretation | 69047-9 |
| 617442 | Additional Results | 82939-0 |
| 617443 | Resources | 99622-3 |
| 617444 | Additional Information | 48767-8 |
| 617445 | Method | 85069-3 |
| 617446 | Genes Analyzed | 48018-6 |
| 617447 | Disclaimer | 62364-5 |
| 617448 | Released By | 18771-6 |
Prior Authorization
Insurance preauthorization is available for this testing; forms are available.
Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.