The Nephrotic Syndrome Region of Interest Analysis is designed to facilitate genetic diagnosis of patients with nephrotic syndromes. Such patients may have a condition that would benefit from immediate treatment and customized clinical management.
This Region of Interest (ROI) study sequences 42 genes syndromic and nonsyndromic nephrotic syndrome. The Nephrotic Syndrome Region of Interest Report includes orthogonally-confirmed sequence variants identified by Next Generation Sequencing and the results of the companion deletion/duplication analysis, if ordered. This study can be ordered for the proband alone by submitting a sample from the affected individual or as a trio with parental samples included in the analysis.
In the case of a non-diagnostic finding, ordering providers have the option to go beyond the Region of Interest test by ordering an expansion to the Claritas Clinical Exome (Test Code N0527). A new sample will not need to be submitted. Interpretation will be provided in a new report that will be available in 12-14 weeks.
- Assesses 42 genes associated with Nephrotic Syndrome. The gene list is updated based on input from Claritas scientists and partners.
- Orthogonally confirmed variants demonstrate high specificity (PPV ~99.998%)
- Orthogonal approach using Illumina NextSeq™ with simultaneous confirmation of 95% of variants on the ThermoFisher Ion Proton™
- Remaining phenotypically-relevant variants are Sanger sequenced so that all reported variants are dual-confirmed. Mean coverage of >100x for both the Illumina NextSeq and the ThermoFisher Ion Proton
- Protein coding sequences and 10 bp of adjacent intronic sequences are analyzed
- This assay detects SNVs, insertions, and deletes less than 10 bp
- Adding the deletion/duplication analysis (Test Code C0573) increases detection rate for copy number variants and larger indels. If not otherwise indicated, genes in this region of interest are partially or fully covered.
Increase the power of the assay:
- Add companion deletion/duplication testing (Test Code C0573)
- If no diagnostic findings are reported in the ROI, providers can order an expanded interpretation of the whole clinical exome (Test Code N0527)
Additional Service Highlights
- Providers may request a review of variant classification at any time.
- Providers may access the Interpretative Genomics Service at Boston Children’s Hospital, which provides consultation with experts in genes and/or phenotypes. Please contact MedicalDirector@claritasgenomics.com for more information.
- Claritas Genomics will release raw data files or provide access to exome data via NextCODE to authorized health care providers. Review Data Return Program details here.