next generation sequencing (NGS)

Genetic Renal Panel v8

The Genetic Renal Panel is comprehensive, personalized and efficient, and can provide information on best methods of treatment, prognosis and recurrence chance for aHUS and C3G (Fengxiao Bu et. al, J Am Soc Nephrol 27: 1245 – 1253, 2016. doi:10.1681/ASN.2015040385). As of July 1, 2021, the Genetic Renal Panel v8 has added screening of the gene WT1. Variants in WT1 are associated with Denys-Drash Syndrome (DDS), which in several patients has presented as aHUS (PMID: 33392118 and PMID: 28720077). Considering DDS and therefore WT1 genetic testing in the differential diagnosis of TMAs has clear diagnostic, clinical and treatment implications.
The 13 genes included on the Genetic Renal Panel v8 platform – CFH, CFI, MCP (CD46), CFB, CFHR5, C3, THBD, DGKE, PLG, ADAMTS13, MMACHC, G6PD and WT1 – are implicated in the thrombotic microangiopathies (TMA), which include complement-mediated Hemolytic Uremic Syndrome (aHUS), Upshaw-Schulman syndrome (a hereditary form of Thrombotic Thrombocytopenic Purpura (TTP)), methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Denys-Drash syndrome (DDS).  Many of these genes have also been implicated in C3 Glomerulopathy (C3G), which includes Dense Deposit Disease (DDD) and C3 Glomerulonephritis (C3GN). Additionally, Genetic Renal Panel v8 screens for two single nucleotide variants that could compromise responsiveness to Eculizumab (C5, c.2653C>T, p.Arg885Cys and c.2654G>A, p.Arg885His).  The Genetic Renal Panel v8 also includes copy number variation screening of the CFH-CFHR5 genomic region using multiplex ligation-dependent probe amplification (MLPA).

The MORL offers the Genetic Renal Panel which is:

  • Comprehensive – tests all genes known to be associated with a wide-array of TMAs and complement-mediated diseases
  • Easy – patient provides one blood sample
  • Convenient – blood draws are easily accessible at a patient’s local doctor’s office
  • Thorough – results are discussed at a multidisciplinary meeting in the context of your patient’s phenotype, other testing ordered and current research
  • Accurate – 99% diagnostic specificity
  • Pinpointed diagnosis – offers guidance for treatment, prognosis for transplant and genetic counseling

An up-to-date custom targeted genomic enrichment and massively parallel sequencing panel as well as multiplex ligation-dependent probe amplification (MLPA) makeup the Genetic Renal Panel test.

Genetic Renal Panel has a diagnostic sensitivity and specificity that is greater than 99%.

Results are discussed at a multidisciplinary Renal Group meeting.

Turnaround time:
Results are sent in approximately 3 weeks.

Sample Required:
3 - 5 cc. whole blood in lavender (EDTA) top tubes
Saliva (DNA Genotek, ORAGene Discover, OGR-500)
10 μg DNA; minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220)
Buccal swabs, at least 4 (DNA Genotek, OraCollect, OCD-100)

Cost & CPT Codes:

Testing Rationale:
Genetic Testing for renal disease answers many important questions pertaining to patient care. The Genetic Renal Panel provides information on recurrence chance, prognosis, and best methods of treatment.

The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.