Why does kidney disease occur?
Search for genetic variations that are consistent with the phenotype to help clarify molecular causes and disease classification.
KIDNEY TRANSPLANT GENOMICS
Comprehensive Genetic Testing for Hereditary Kidney Disease
Genetic Insights
Informing Decisions Across the Kidney Transplant Journey.
FROM ETIOLOGY TO TRANSPLANT CARE
Understand the Underlying Disease,
Then Assess Risk Across the Transplant Journey.
Whole-exome testing for kidney disease starts with clinical phenotype and family history, and uses genetic evidence for etiology analysis, relative donor evaluation, transplant strategy discussion, and postoperative risk management.
How Should Related Donors Be Evaluated?
Prioritize the identification of pathogenic variants in recipients, and then discuss the targeted verification and individualized assessment of related donors.
Which Findings Inform Transplant Planning?
Information on genes and mutations in genetic diseases such as PH and FGA can provide a basis for multidisciplinary transplantation plan discussions.
What Requires Attention After Transplantation?
Combining the primary pathogenesis, antibodies, complement and pathology, we will focus on recurrence and transplanted kidney abnormalities in stages.
GENES IN CLINICAL CONTEXT
Seven Categories of Genetic Insights
Addressing Specific Kidney Disease Questions.
The main analysis directions and representative genes are listed below. Actual analysis and interpretation need to be combined with phenotype, and the specific coverage and mutation types are subject to the detection plan.
Alport and COL4-related kidney disease
Focus on basement membrane related diseases, pedigree verification and relative donor evaluation.
COL4A3 · COL4A4 · COL4A5
Hereditary FSGS/SRNS
Distinguish clues in hereditary podocytopathy and assist in analysis of recurrence mechanisms.
NPHS1 · NPHS2 · WT1 · INF2 · ACTN4 · TRPC6
hereditary cystic kidney disease
Including ADPKD and other cystic kidney disease-related analysis directions.
PKD1 · PKD2
Tubulointerstitial disease, CAKUT, and syndromic nephropathy
Combining structural abnormalities, extrarenal manifestations, and family history to search for genetic clues.
UMOD · MUC1 · REN · HNF1B · PAX2
Metabolic and genetic deposition diseases
Hyperoxaluria, Fabry disease, and hereditary amyloidosis.
AGXT · GRHPR · HOGA1 · GLA · FGA
Complement-mediated TMA/aHUS and C3 glomerulopathy
Complement and autoantibody results are combined to assist in mechanism typing.
CFH · CFI · C3 · CFB · CD46 · CFHRs · THBD · DGKE
Note on Transplantation-Related Thrombophilia and Thrombosis Risks
Assist in the assessment of genetic thrombophilia factors in relevant clinical contexts.
PROC · PROS1 · SERPINC1 · F5 · F2
There are coverage and technical boundaries for whole-exome detection; special repetitive sequences, complex structural variations, etc. may require supplementary methods. The inclusion of a gene in the analysis direction does not mean that all variant types can be detected.
RISK ACROSS TIME
One Genetic Result,
Different Questions at Each Stage.
Before transplantation
Create a baseline map of causes and risks
- Analysis of the etiology of unexplained end-stage renal disease.
- Relative donor directed verification and risk adaptation.
- Transplantation pathway assessment in diseases such as PH/FGA.
Perioperative period and early stage
Observe abnormalities based on triggers
- TMA/aHUS: Focus on genetic susceptibility and triggers such as infection, drugs, ischemia-reperfusion, etc.
- FSGS: Combined with genetic typing to evaluate early proteinuria and recurrence mechanisms.
- C3 Glomerulopathy: Binding of Complement, Antibodies, and Pathology.
long term follow up
Continuously connecting genes and phenotypes
- Proteinuria, hematuria, blood pressure and transplanted kidney function were tracked.
- Recurrence and disease progression were assessed according to the original pathogenesis.
- Taking into account the long-term health of the recipient and related relative donors.
The risk of recurrence in hereditary FSGS is generally low, but a negative result does not rule out genetic disease; genetic susceptibility to IgA nephropathy does not equate to a diagnosis of single-gene causation or prediction of individual recurrence.
WHO MAY BENEFIT
What situations warrant discussion of testing?
- End-stage renal disease patients with unknown primary disease
- People who are waiting for kidney transplantation and have clues about hereditary kidney disease
- Recipients and related donors who intend to receive a living donor kidney from a relative
- Patients who need to be evaluated for risk of recurrence of primary disease or TMA after transplantation
- Those with abnormal kidney transplant function, the cause of which is yet to be investigated, or those with previous kidney transplant failure
- Those with a family history of kidney disease, proteinuria, hematuria or renal failure
Whether to test, how to choose testing methods, and how to deal with variants of unknown significance should be discussed by the clinical team in conjunction with genetic counseling; the results cannot alone determine donor qualifications, transplantation methods, or medication.
TEST & INTERPRETATION
Test Information & Interpretation
- Gene whole exon region
- 20,000+
- average sequencing depth
- ≥30×
- 10× coverage
- ≥95%
- reporting cycle
- 2week
Parameters and cycles are based on the product information on this page. Please confirm the sample delivery conditions, starting time, specific testing and analysis scope before entrusting.
Preparing Samples and Clinical Information
Samples were anticoagulated with EDTA-K2. It is recommended that clinical phenotype, pathology, family history, past genetic results and transplantation-related information be provided simultaneously to facilitate targeted analysis.
Integrate Genetic Findings into Clinical Assessment
From etiological clues to variant interpretation, to necessary pedigree verification and multidisciplinary discussion. Discuss the need for supplementary testing for specific variants and negative but highly suspicious cases.
About treatment mechanism and drug adaptation
Specific C5 sites may affect eculizumab binding and C5 blocking, and need to be interpreted in conjunction with specific variants and clinical background; it cannot be generalized to all C5 variants. Immune effector information such as FCGR3A is a research annotation and is not used as an independent basis for medication.
PRODUCT RESOURCES
Complete Product Resources
Full spectrum genetic testing for hereditary kidney disease · Double-sided single page
Start with your clinical question
Contact AlloDx to discuss assay coverage, sample requirements, and interpretation needs.
Contact AlloDx ↗Information and references
Product information is compiled based on AlloDx finalized V3 promotional materials.
Some original figures, videos and downloadable materials are provided in Chinese.