Home
HelpTest ID: NEPHP Comprehensive Nephrology Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Hereditary Renal Genetic Testing Patient Information (T918)
3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease
Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis, nephritic/nephrotic syndrome, Alport syndrome, cystic kidney diseases (including polycystic kidney disease), nephronophthisis, tubulointerstitial disease, congenital anomalies of kidney and urinary tract, nephrocalcinosis, nephrolithiasis (kidney stones), renal electrolyte imbalances (including Bartter syndrome), C3 glomerulopathy, and complement-mediated thrombotic microangiopathy (also known as atypical hemolytic uremic syndrome)
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 302 genes associated with hereditary kidney disease: ABCC6, ACE, ACTN4, ADAMTS13, ADCY10, AGT, AGTR1, AGXT, AHI1, ALG1, ALG8, ALG9, ALMS1, ALPL, ANKS6, ANLN, ANOS1, APOA1, APOE, APOL1 [Chr22(GRCh37]:g.36661895-36661916 and g.36662023-36662062 only), APRT, AP2S1, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ATP6V0A4, ATP6V1B1, ATP7B, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BSND, C2, C2CD3, C3, C5 [Chr9(GRCh37):g.123759950-123759973 only], C8A, C8orf37, CA2, CACNA1D, CACNA1H, CASR, CC2D2A, CD151, CD2AP, CD46 (MCP), CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD7, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CPLANE1, CRB2, CREBBP, CSPP1, CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DCDC2, DDX59, DGKE, DHCR7, DMP1, DNAJB11, DYNC2H1, DZIP1L, EGF, EMP2, ENPP1, EYA1, FAH, FAM20A, FAN1, FAT1, FGA, FGF20, FGF23, FGFR1, FGFR2, FN1, FOXI1, FOXP1, FRAS1, FREM1, FREM2, FXYD2, GALNT3, GANAB, GATA3, GLA, GLI3, GLIS2, GNA11, GPC3, GREB1L, GRHPR, GRIP1, GSN, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, JAG1, KANK2, KCNA1, KCNJ1, KCNJ10, KCNJ5, KIAA0556 (KATNIP), KIAA0586, KIAA0753, KIF12, KIF14, KIF7, KL, KLHL3, LAMA5, LAMB2, LMNA, LMX1B, LRIG2, LRP2, LRP5, LYZ, LZTFL1, MAGED2, MAGI2, MAPKBP1, MEFV, MKKS, MKS1, MMACHC, MOCOS, MYH9, MYO1E, NEK1, NEK8, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OFD1, PAX2, PBX1, PCBD1, PDE6D, PDSS2, PHEX, PKD1, PKD2, PKHD1, PLCE1, PLCG2, PLG, PMM2, PODXL, PRKCSH, PRPS1, PTPRO, REN, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SIX1, SLC12A1, SLC12A3, SLC17A5, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, ,SLC5A1, SLC5A2, SLC6A19, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, VDR, VHL, VIPAS39, VPS33B, WDR19, WDR35, WDR72, WDR73, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, ZMPSTE24, ZNF423. See Targeted Genes and Methodology Details for Comprehensive Nephrology Gene Panel and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a variety of hereditary kidney diseases.
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reporting Name
Comprehensive Nephrology Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Monogenic kidney disease spans a clinical spectrum of conditions with etiologies that can include structural, metabolic, immune, or endocrine abnormalities. Many heritable kidney diseases exhibit overlapping or complex phenotypes leading to a broad clinical differential. This gene panel assesses over 300 genes associated with a diverse spectrum of monogenic kidney diseases spanning the structural, metabolic, immune, and endocrine phenotypes. Assessing genetic etiologies across this phenotypic spectrum may aid in differentiating the genetic etiology of complex or ambiguous clinical presentations.(1-6)
Renal phenotypes assessed on this panel include: focal segmental glomerulosclerosis, nephritic/nephrotic syndrome, Alport syndrome, cystic kidney diseases (including polycystic kidney disease), nephronophthisis, tubulointerstitial disease, congenital anomalies of kidney and urinary tract, nephrocalcinosis, nephrolithiasis (kidney stones), renal electrolyte imbalances (including Bartter syndrome), C3 glomerulopathy, and complement-mediated thrombotic microangiopathy (CM-TMA; also known as atypical hemolytic uremic syndrome [aHUS]).
Many hereditary kidney diseases exhibit autosomal dominant, autosomal recessive, and/or X-linked inheritance. However, some hereditary kidney diseases exhibit complex or multifactorial inheritance. These complex and environmental etiologies are not assessed on this gene panel.
Several risk alleles associated with increased susceptibility to kidney disease are also included on this panel to aid in risk assessment:
-APOL1 Genotype: Two alleles, commonly called G1 and G2, have been associated with increased risk for development or progression of nondiabetic chronic kidney diseases.(7)
-CFH-H3 Risk Haplotype: The variants that comprise this risk haplotype are common in the general population, but in the context of additional pathogenic genetic and environmental factors, the presence of this risk haplotype is associated with an increased risk for development or progression of atypical hemolytic uremic syndrome.(8)
-MCP/CD46 Risk Haplotype: The variants that comprise this risk haplotype are common in the general population, but in the context of additional pathogenic genetic and environmental factors, the presence of this risk haplotype is associated with an increased risk for development or progression of atypical hemolytic uremic syndrome.(8)
-Finally, two variants in C5 (p.Arg885His and p.Arg885Cys) that are associated with poor response to eculizumab can be detected by this panel.(9)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(10) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Lemaire M, Noone D, Lapeyraque AL, Licht C, Fremeaux-Bacchi V. Inherited kidney complement diseases. Clin J Am Soc Nephrol. 2021;16(6):942-956. doi:10.2215/CJN.11830720
2. Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y. Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol. 2021;16(5):790-799. doi:10.2215/CJN.02320220
3. Quinlan C, Rheault MN. Genetic basis of type IV collagen disorders of the kidney. Clin J Am Soc Nephrol. 2021;16(7) 1101-1109. doi:10.2215/CJN.19171220
4. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D Inherited tubulopathies of the kidney: Insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-630. doi:10.2215/CJN.14481119
5. Westland R, Renkema KY, Knoers NVAM. Clinical integration of genome diagnostics for congenital anomalies of the kidney and urinary tract. Clin J Am Soc Nephrol. 2020;16(1):128-137. doi:10.2215/CJN.14661119
6. Li AS, Ingham JF, Lennon R. Genetic disorders of the glomerular filtration barrier. Clin J Am Soc Nephrol. 2020;15(12):1818-1828. doi:10.2215/CJN.11440919
7. Parsa A, Kao WH, Xie D, et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi:10.1056/NEJMoa1310345
8. Bernabeu-Herrero ME, Jimenez-Alcazar M, Anter J, et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol. 2015;67(2 Pt B):276-286. doi:10.1016/j.molimm.2015.06.021
9. Nishimura J, Yamamoto M, Hayashi S, et al. Genetic variants in C5 and poor response to eculizumab. N Engl J Med. 2014;370(7):632-639. doi:10.1056/NEJMoa1311084
10. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81401 x 2
81404 x 12
81405 x 8
81406 x 22
81407 x 13
81408 x 5
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NEPHP | Comprehensive Nephrology Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618087 | Test Description | 62364-5 |
| 618088 | Specimen | 31208-2 |
| 618089 | Source | 31208-2 |
| 618090 | Result Summary | 50397-9 |
| 618091 | Result | 82939-0 |
| 618092 | Interpretation | 69047-9 |
| 618093 | Additional Results | 82939-0 |
| 618094 | Resources | 99622-3 |
| 618095 | Additional Information | 48767-8 |
| 618096 | Method | 85069-3 |
| 618097 | Genes Analyzed | 48018-6 |
| 618098 | Disclaimer | 62364-5 |
| 618099 | Released By | 18771-6 |
mcl-moltechtestmenu