Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel
Use
The Invitae Nephrotic Syndrome and FSGS Panel analyzes genes associated with progressive renal disorders such as Alport syndrome, FSGS, and nephrotic syndrome. These conditions represent a genetically heterogeneous spectrum of hereditary renal disorders, making phenotype-based diagnosis challenging. This panel helps in evaluating multiple potential genes efficiently and can confirm a diagnosis, guide treatment decisions, and inform recurrence-risk assessment. Identifying disease-causing variants aids genetic counseling.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternate specimens including saliva, buccal swab, and gDNA are accepted. Consult Invitae for further specimen collection details and for any questions regarding test limitations.
Limitations
The assay targets clinically important regions of each gene, including coding exons and adjacent intronic sequences. Certain variants like structural rearrangements and complex sequence architectures may not be detected. Sensitivity for detecting larger insertions and deletions may be marginally reduced. Regions or variants not covered include promoters, non-coding exons, and unspecified non-coding areas. The results reflect genomic DNA analysis; rare discrepancies may occur due to hematolymphoid neoplasms or recent transfusions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)