Genomic Unity® Retinal Disorders Analysis

UO002

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

Test Description

Genomic Unity® Retinal 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 357 nuclear genes associated with retinal disorders combined with mitochondrial genome analysis.

Genomic Unity® Retinal 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. It additionally eliminates the need to order separate testing for mitochondrial genes.

When to Order

Order this test when clinical symptoms are consistent with a suspected retinal disorder.

Included Genes

ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1 (GPR98, USH2C), ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARR3, ARSG, ASRGL1, ATF6, ATOH7, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP410, CFAP418 (C8orf37), CHM, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COQ2, CPE, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTSD, CWC27, CYP4V2, DHDDS, DHX32, DHX38, DNAJC17, DNAJC5, DRAM2, DSCAML1, DTHD1, DYNC2H1, DYNC2I2, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MPDZ, MTPAP, MTRFR (C12orf65), MTTP, MVK, MYO7A, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDSS2, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC45A2, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513

Mitochondrial genes
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

Included Analyses

  • Sequence analysis of retinal disorder-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of retinal disorder-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Mitochondrial genome analysis including: single nucleotide variants, deletions and insertions with heteroplasmy (≥5%), and large deletions.
  • Short tandem repeat (STR) analysis of the ATXN7 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

81434, 81460, 81465

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® Retinal 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

Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.

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

Test limitations:
The CACNA1F, LRP5, RPGR (exon 15), USH1C (intron 5 VNTR EXP[9] polymorphism) ATXN7, CACNA1F, LRP5, RPGR genes are not fully covered by this test, therefore not all pathogenic variants may be detected.