Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

Casandra

Casandra Test Code MC85545Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID RFSGSCPT Codes 81405, 81406, 81407, 81408, 81479

Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (56 genes)

ACTN4ALG1ANLNAPOL1ARHGAP24ARHGDIACD2APCLCN5COL4A3COL4A4COL4A5COQ2COQ6COQ8BCRB2CUBNDGKEEMP2FAN1FAT1FN1INF2ITGA3ITGB4KANK2LAMA5LAMB2LMX1BMAGI2MYH9MYO1ENPHS1NPHS2NUP107NUP133NUP160NUP205NUP85NUP93OCRLPAX2PDSS2PLCE1PLCG2PMM2PODXLPTPROSCARB2SGPL1SMARCAL1TBC1D8BTRPC6TTC21BWDR73WT1ZMPSTE24