Home
HelpTest Code RSCGP Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies
Ordering Guidance
A next-generation sequencing (NGS) panel of the 6 genes associated with Bartter syndrome, a rare renal salt-wasting disorder, is available. See RBART / Bartter Syndrome Gene Panel, Varies. It is inappropriate to order both RBART and this test on the same patient because the genes on the RBART panel are included on this panel.
Testing for CASR is available individually. See CASRG / CASR Full Gene Sequencing with Deletion/Duplication, Varies.
With a few exceptions, this panel is focused on conditions where the primary phenotype is impaired osmoregulation that may result in secondary extrarenal symptoms. If interested in testing for syndromic disorders that are associated with kidney disease but feature broader clinical phenotypes and multisystem involvement, see NEPHP / Comprehensive Nephrology Gene Panel, Varies.
Targeted testing for familial variants (also called site-specific or known mutations/variants 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 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 1 of the following forms with the specimen:
-Renal Diagnostics Test Request (T830)
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance
Establishing a diagnosis for a variety of hereditary conditions associated with renal salt wasting or abnormal salt retention; impaired acid-base, water, and calcium homeostasis; or kidney crystallization
Special Instructions
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reporting Name
Renal Stone/Electrolyte Gene 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.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. 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 May;17(5):405-424
2. Singh P, Harris PC, Sas DJ, Lieske JC: The genetics of kidney stone disease and nephrocalcinosis. Nat Rev Nephrol. 2022 Apr;18(4):224-240
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
81404 x 4
81405 x 2
81406 x 8
81407 x 2
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| RSCGP | Renal Stone/Electrolyte Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618129 | Test Description | 62364-5 |
| 618130 | Specimen | 31208-2 |
| 618131 | Source | 31208-2 |
| 618132 | Result Summary | 50397-9 |
| 618133 | Result | 82939-0 |
| 618134 | Interpretation | 69047-9 |
| 618135 | Additional Results | 82939-0 |
| 618136 | Resources | 99622-3 |
| 618137 | Additional Information | 48767-8 |
| 618138 | Method | 85069-3 |
| 618139 | Genes Analyzed | 48018-6 |
| 618140 | Disclaimer | 62364-5 |
| 618141 | Released By | 18771-6 |