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HelpTest Code ADPKP Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known mutation/variant 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.
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.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
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.
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. Hereditary Renal Genetic Testing Patient Information (T918)
3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease
Establishing a diagnosis of autosomal dominant polycystic kidney disease
Special Instructions
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reporting Name
Focused ADPKD Gene PanelSpecimen 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.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) 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 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81405
81406 x 2
81407
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ADPKP | Focused ADPKD Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618003 | Test Description | 62364-5 |
| 618004 | Specimen | 31208-2 |
| 618005 | Source | 31208-2 |
| 618006 | Result Summary | 50397-9 |
| 618007 | Result | 82939-0 |
| 618008 | Interpretation | 69047-9 |
| 618009 | Additional Results | 82939-0 |
| 618010 | Resources | 99622-3 |
| 618011 | Additional Information | 48767-8 |
| 618012 | Method | 85069-3 |
| 618013 | Genes Analyzed | 48018-6 |
| 618014 | Disclaimer | 62364-5 |
| 618015 | Released By | 18771-6 |