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HelpTest Code RFSGS Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies
Ordering Guidance
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.
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
Specimen Type: Whole blood
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 of steroid resistant nephrotic syndrome (SRNS)
Establishing a diagnosis of hereditary SRNS
Guiding treatment decisions in individuals with nephrotic syndrome
Special Instructions
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reporting Name
FSGS/Nephrotic Syndrome 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.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Chen YM, Liapis H: Focal segmental glomerulosclerosis: molecular genetics and targeted therapies. BMC Nephrol. 2015 Jul 9;16:101
2. De Vriese AS, Sethi S, Nath KA, et al: Differentiating primary, genetic, and secondary FSGS in adults: A clinicopathologic approach. J Am Soc Nephrol. 2018 Mar;29(3):759-774
3. Parsa A, Kao WH, Xie D, et al: APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi: 10.1056/NEJMoa13103454
4. Rood IM, Deegens JKJ, Wetzels JFM: Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant. 2012 Mar;27(3):882-890
5. 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
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
81408 x 2
81405 x 2
81406 x 4
81407 x 4
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| RFSGS | FSGS/Nephrotic Syndrome Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618115 | Test Description | 62364-5 |
| 618116 | Specimen | 31208-2 |
| 618117 | Source | 31208-2 |
| 618118 | Result Summary | 50397-9 |
| 618119 | Result | 82939-0 |
| 618120 | Interpretation | 69047-9 |
| 618121 | Additional Results | 82939-0 |
| 618122 | Resources | 99622-3 |
| 618123 | Additional Information | 48767-8 |
| 618124 | Method | 85069-3 |
| 618125 | Genes Analyzed | 48018-6 |
| 618126 | Disclaimer | 62364-5 |
| 618127 | Released By | 18771-6 |