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HelpTEST ID NEPHP Comprehensive Nephrology Gene Panel, Varies
Reporting Name
Comprehensive Nephrology Gene PanelSpecimen Type
VariesOrdering 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
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Special Instructions
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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)
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.