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This panel was developed through an evidence-based process that includes clinical guidelines, literature review, expert input, and the selection of leading variant databases such as HGMD and ClinVar.
With enhanced coverage of technically complex regions and analytically validated targets, our panel improves diagnostic performance, facilitates differential diagnosis, and supports informed treatment planning. The test is particularly effective in pediatric cases and in patients with unexplained chronic kidney disease, nephrotic syndrome, or suspected hereditary nephropathies.
This panel is highly valuable for:
Children and adults with chronic kidney disease (CKD) or end-stage renal disease (ESRD)
Patients with steroid-resistant nephrotic syndrome (SRNS)
Individuals with suspected hereditary nephropathy or syndromic renal disorders
Patients with early-onset or atypical presentations of kidney disease
Families with a history of renal abnormalities or related multisystem conditions
The 98-gene nephrology panel includes:
Genes associated with glomerular, tubular, cystic, and mitochondrial nephropathies
Key targets for syndromes involving renal dysplasia, electrolyte imbalances, and structural malformations
Mitochondrial and nuclear DNA involved in renal energy metabolism and transport
Genes known to influence steroid response and transplant recurrence risk in nephrotic syndrome
Our test provides comprehensive genomic insights to support accurate diagnoses and long-term care strategies.
Genes analyzed: 98 selected immunogenetic targets
Technology platform: High-throughput next-generation sequencing (NGS)
Coverage depth: >98% at >20x depth across specific exons and intronic boundaries
Bioinformatics process: Clinically validated with high analytical accuracy; data interpreted according to AMP/ACMG guidelines
Complementary testing: Sanger confirmation or additional assays performed when necessary
Turnaround time: 10 calendar days
The Comprehensive Nephrology Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 98 genes associated with immunological disorder risk. The target regions of this panel include coding exons and the 10 bp intronic sequences immediately adjacent to each exon–intron boundary of every coding exon in these genes.
Workflow and Technology:
Patient DNA is prepared using targeted hybrid capture, assigned a unique index, and sequenced using Illumina’s sequencing-by-synthesis (SBS) technology. Data are aligned to the human genome build GRCh37.
Variant Interpretation:
Variant interpretation follows the current professional guidelines of the American College of Medical Genetics and Genomics (ACMG) for germline sequence variant classification, using the FabricEnterprise™ Pipeline 6.6.15.
Interpretation and reporting are performed by Fabric Clinical (CLIA ID: 45D2281059, CAP ID: 9619501), located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413.
Quality Filters Applied:
Variant quality <500
Allelic balance <0.3
Coverage <10x
ACTN4, AHI1, AVP, AVPR2, BBS1, BBS10, BBS2, BCS1L, BOLA3, C10orf2, CASR, CEP290, CFTR, CLCNKB, COL4A1, COL4A3, COL4A5, DGUOK, DHCR7,
DNM1L, ECHS1, EGF, EYA1, FAH, FBXL4, FGF23, FOXRED1, HNF1B, HNF4A, HSD11B2, INF2, JAG1, KCNJ1, KCNJ10, LAMB2, LEPR, LRP5, MC4R, MPV17,
MT-ATP6, MT-CO1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-TC, MT-TE, MT-TF, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TQ,
MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NDUFAF2, NDUFS1, NFU1, NPHP1,NPHS1, NPHS2, NTRK2, OPA1, PAX2, PHEX, PKD1, PKD2, PKHD1,
PLCE1, POLG, POLG2, RRM2B, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC25A4,SUCLA2, SUCLG1, TK2, TMEM67, TMEM70, TRPC6, TSC1, TSC2,
TYMP, UMOD, VHL, VPS13B, WT1
The Genuvi Nephrology Genetic Panel provides practical insights into hereditary kidney disease. By integrating high-quality sequencing with expert interpretation, this test enables accurate diagnosis, therapeutic guidance, and family risk assessment. It is a vital tool in modern nephrology for both pediatric and adult patients.
Zhang MQ. Human Molecular Genetics. May 1998. Statistical features of human exons and their flanking regions. (PMID: 9536098)
Baralle D, Baralle M. Journal of Medical Genetics. October 2005. Splicing in action: assessing disease-causing sequence changes. (PMID: 16199547)
Cízková A, Stránecký V, Mayr JA, Tesarová M, et al. Nature Genetics. November 2008. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (PMID: 18953340)
Spiegel R, Khayat M, Shalev SA, Horovitz Y, et al. Journal of Medical Genetics. March 2011. TMEM70 mutations are a common cause of nuclear-encoded ATP synthase assembly defects: further delineation of a new syndrome. (PMID: 21147908)
Catteruccia M, Verrigni D, Martinelli D, Torraco A, et al. Molecular Genetics and Metabolism. March 2014. Persistent pulmonary hypertension of the newborn (PPHN): a frequent manifestation in patients with TMEM70 deficiency. (PMID: 24485043)
Braczynski AK, Vlaho S, Müller K, Wittig I, et al. BioMed Research International. 2015. ATP synthase deficiency due to TMEM70 mutation causes ultrastructural mitochondrial degeneration and is treatable. (PMID: 26550569)
