Eye Disorders Panel

Eye Disorders Panel

  • Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults. More than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as congenital (present at birth) cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations. Up to 40% of patients with certain types of strabismus (ocular misalignment) have a family history of the disease and efforts are currently under way to identify the responsible genes. Researchers have mapped several genes for glaucoma and are starting to identify genes involved in macular degeneration. They also are making very significant progress in identifying the genes that cause retinitis pigmentosa, a degenerative disease of the retina that causes night blindness and gradual vision loss (1). Genetic testing can aid in early diagnosis to treat these disorders and assess risk for family members and future planning.
  • Genes (211): ABCA4, ABHD12, ADAM9, AHI1, AIPL1, ALMS1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BMP4, C1QTNF5, C2orf71, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL2A1, COL4A1, COL9A1, COL9A2, CRB1, CRX, CTSD, CYP1B1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FSCN2, FZD4, GNAT1, GNAT2, GPR143, GPR179, GRIP1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMCN1, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KCTD7, KIF7, KLHL7, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MYO7A, MYOC, NDP, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPTN, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RB1, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC45A2, SMOC1, SNRNP200, SOX2, SPATA7, STRA6, TCTN2, TCTN3, TIMM8A, TIMP3, TMEM126A, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTPA, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VSX2, WDPCP, WFS1, ZNF423, and ZNF513
    Test Code: 7045
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Eye Disorders Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81404×11, 81405×1, 81406×9, 81408×5, 81479×178
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Retinitis Pigmentosa Panel
    Cone Rod Dystrophies Panel
    Macular Degeneration Panel
    Usher Syndrome Panel
    Bardet-Biedl Syndrome Panel
  • References:
    1. http://my.clevelandclinic.org/health/diseases_conditions/inherited_eye_disease

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