Genomic Unity® Nephrology Disorders Analysis

UO001

Genomic Unity® Nephrology Disorders Analysis is a diagnostic test designed to identify genetic variants that cause nephrology disorders.

Test Description

Genomic Unity® Nephrology Disorders Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 427 genes associated with inherited nephrology disorders.

Genomic Unity® Nephrology Disorders Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when clinical symptoms are consistent with nephrology disease.

Included Genes

ACE, ACTG1, ACTN4, ADAMTS9, ADCY10, AGT, AGTR1, AGTR2, AGXT, AHI1, ALG1, ALG5, ALG8, ALG9, ALMS1, ALPL, ANKFY1, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC9, ATP6V0A4, ATP6V1B1, ATP6V1C2, ATP7B, ATXN10, AVIL, AVP, AVPR2, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMP7, BNC2, BSND, C2CD3, C3, C4A, CA2, CACNA1D, CACNA1H, CACNA1S, CASR, CC2D2A, CD151, CD2AP, CD46, CDC5L, CDK20, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CFAP418(C8orf37), CFB, CFH, CFI, CHD1L, CHD7, CISD2, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN14, CLDN16, CLDN19, CLPB, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B(ADCK4), CPLANE1(C5ORF42), CRB2, CREBBP, CRKL, CSPP1, CTNS, CTU2, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27B1, CYP2R1, CYP3A4, DAAM2, DACH1, DCDC2, DGKE, DHCR7, DHTKD1, DICER1, DLC1, DLG1, DMP1, DNAJB11, DSTYK, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, E2F3, EGF, EHHADH, EMP2, ENPP1, ETV4, EYA1, FAH, FAM111A, FAM20A, FAN1, FAT1, FAT4, FGA, FGF20, FGF23, FGFR1, FGFR2, FLCN, FN1, FOXC1, FOXI1, FOXP1, FRAS1, FREM1, FREM2, FXYD2, GALNT3, GAMT, GANAB, GAPVD1, GATA3, GATM, GCKR, GCM2, GDNF, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNAS-AS1, GON7, GPC3, GPHN, GREB1L, GREM1, GRHPR, GRIP1, GSN, HNF1B, HNF4A, HOGA1, HOXA11, HOXA13, HOXA4, HOXB6, HPRT1, HPSE2, HSD11B2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, INF2, INPP5E, INTU, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KANK1, KANK2, KANK4, KAT2B, KAT6B, KATNIP, KCNA1, KCNJ1, KCNJ10, KCNJ5, KCNK5, KCTD1, KIAA0586, KIAA0753, KIF12, KIF14, KIF7, KIRREL1, KL, KLHL3, KMT2D, LAGE3, LAMA5, LAMB2, LCAT, LIFR, LMNA, LMX1B, LRIG2, LRP2, LRP4, LRP5, LYZ, LZTFL1, MAFB, MAGED2, MAGI2, MAGT1, MAPKBP1, MEFV, MKKS, MKS1, MMACHC, MOCOS, MUC1, MYH9, MYO1E, NEDD4L, NEIL1, NEK1, NEK8, NEU1, NFKB2, NHERF1(SLC9A3R1), NIPBL, NLRP3, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, OPLAH, OSGEP, PARN, PAX2, PBX1, PCBD1, PDE1A, PDE6D, PDSS2, PHEX, PKD1, PKD2, PKHD1, PLCE1, PLCG2, PLG, PMM2, PODXL, PRKCSH, PRPS1, PTPRO, REN, RET, RMND1, ROBO1, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SCARB2, SCLT1, SCN10A, SCN4A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC61B, SEC63, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC17A5, SLC22A12, SLC26A1, SLC26A3, SLC26A4, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC6A19, SLC7A7, SLC7A9, SLIT2, SMARCAL1, SON, SOX11, SOX17, SRGAP1, STAR, STS, STX16, TBC1D1, TBC1D8B, TBX18, TBX6, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TNFRSF1A, TNS2, TNXB, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIM8, TRPC6, TRPM6, TRPS1, TRPV5, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, UMPS, UPK3A, VDR, VHL, VIPAS39, VPS33B, VWA2, WDPCP, WDR19, WDR35, WDR4, WDR72, WDR73, WFS1, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, XPO5, YRDC, ZMPSTE24, ZMYM2, ZNF423

Included Analyses

  • Sequence analysis of nephrology disorder-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of nephrology disorder-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the ATXN10 gene. (Learn more).

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

81443

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Methods and Limitations

Genomic Unity® Nephrology Disorders Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The C4A, COL4A6, HOXA13, INF2, KL, LRP5, MAGI2, MUC1, NXF5 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The C4A, MUC1 and TNXB genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. Short tandem repeats are not reported in the HOXA13 gene.