Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS). It helps in establishing a diagnosis of hereditary SRNS and guides treatment decisions in individuals with nephrotic syndrome. The identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for focal segmental glomerulosclerosis or nephrotic syndrome.
Special Instructions
Targeted testing for familial variants is available for the genes on this panel. Customization of this panel and single gene analysis for any gene present on this panel are available. Specimen should preferably arrive within 96 hours of collection.
Limitations
Next-generation sequencing may not detect all types of genomic variants, with a variable depth of coverage for some target regions; assay performance below acceptable criteria or for failed regions will be noted. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp. Deletions-insertions of 40 or more bp, including mobile element insertions, may be less reliably detected. The analysis is not effective for regions of homology, high GC content, and repetitive sequences. Single exon resolution cannot always be achieved due to genomic complexity. The test does not detect low levels of mosaicism or differentiate between somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred)/Refrigerated
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.