Genetic testing plays a critical role in diagnosing, managing, and treating inherited renal diseases. PreCheck Health Services offers a comprehensive Nephrology Genetic Panel that analyzes 98 carefully selected genes associated with a broad spectrum of kidney disorders. This panel was developed through an evidence-based process that includes clinical guidelines, literature review, expert feedback, and curation from leadingvariant databases such as HGMD and Clin Var.
With enhanced coverage of technically challenging regions and analytically validated targets, our panel improves diagnostic yield, supports differential diagnosis, and facilitates informed treatment planning. The test is especially impactful in pediatric cases and patients with unexplained chronic renal failure, nephrotic syndrome, or suspected hereditary nephropathies.
This panel is highly valuable for:
- Children and adults with chronic renal failure (CRF) or end-stage renal disease (ESRD)
- Patients with steroid-resistant nephrotic syndrome (SRNS)
- Individuals with suspected inherited nephropathy or syndromic renal disorders
- Patients with early-onset or atypical presentations of kidney disease
- Families with a history of renal anomalies or related multi system 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 impact steroid responsiveness and transplant recurrence risk in nephrotic syndrome
Our test provides broad genomic insight to support precise diagnoses and long-term care strategies.
* Genes Analyzed: 98 curated immunogenetics targets
*Technology Platform: High-throughput Next-Generation Sequencing (NGS)
* Depthof Coverage: >98% at >20x depth across targeted exons and intronicboundaries
*Bioinformatics Pipeline: Validated with clinical-grade precision; datainterpreted using AMP/ACMG guidelines
*Supplemental Testing: Sanger confirmation or additional assays when required
*Turnaround Time: 10 calendar days
The Comprehensive Nephro Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 98 genes associated with immunological disorder risk. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using human genome build GRCh37. Variant interpretation is performed according to current American College ofMedical Genetics and Genomics (ACMG)professional guidelines for the interpretation of germline sequence variants using FabricEnterpriseTM Pipeline 6.6.15. Variant interpretation and reporting is performed by Fabric Clinical (CLIA ID: 45D2281059 and CAP ID:9619501)),located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413. The following quality filters are applied to all variants:quality <500, allelic balance<0.3, coverage <10x.
*Improved Diagnostic Accuracy: Identifies under lying genetic causes in pediatric and adult CRF.
*Treatment Optimization: Distinguishes steroid-resistant NS from immune-mediated NS to avoid ineffective therapies.
*Risk Prediction: Helps assess recurrence risk in kidney transplant candidates.
*Family Planning: Enables cascade testing and informed reproductive decisions.
*Syndromic Insight: Facilitates early diagnosis in patients with multi system involvement.
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 Nephrology Genetic Panel from PreCheck Health Services delivers actionable insights into hereditary kidney disease. By integrating high-quality sequencing with expert interpretation, this test supports accurate diagnosis, therapeutic guidance, and family risk assessment. It is a vital tool in modern nephrology for pediatric and adult patient populations.
1. Zhang MQ. Human molecular genetics. 1998, May. Statistical features of human exons and their flanking regions. (PMID: 9536098)
2. Baralle D, Baralle M. Journal of medical genetics. 2005, Oct. Splicing in action: assessing disease causing sequence changes. (PMID:16199547)
3. Cízková A, Stránecký V, Mayr JA, Tesarová M, et al. Nature genetics. 2008, Nov. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (PMID: 18953340)
4. Spiegel R, Khayat M, Shalev SA, Horovitz Y, et al. Journal of medical genetics. 2011, Mar. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. (PMID: 21147908)
5. Catteruccia M, Verrigni D, Martinelli D, Torraco A, et al. Molecular genetics and metabolism. 2014, Mar. Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. (PMID: 24485043)
6. Braczynski AK, Vlaho S, Müller K, Wittig I, et al. BioMed research international. 2015. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. (PMID: 26550569)
latest announcements and stay updated on our most recent developments.
.svg)
