Retinitis Pigmentosa Panel

Retinitis Pigmentosa Panel

  • Retinitis pigmentosa is a group of inherited eye diseases that affect the retina and causes breakdown of photoreceptor cells. Photoreceptor cells capture and process light helping us to see, thus if they are broken down or die a progressive vision loss will occur. Symptoms include loss of peripheral vision, a development of tunnel vision, and eventual blindness (1). Several genes have been associated with retinitis pigmentosa as well as other eye diseases. These genes play essential roles in the structure and function of specialized light receptor cells in the retina (2). Most cases of RP are familiar and inherited in a variety of ways including dominant, recessive, and sex-linked recessive. Some cases are sporadic and lack a family history (3). Genetic testing is recommended in order to better understand the pattern of inheritance for the disease as well as assess risk factors for the affected individuals and their family.
  • Genes (111): ABCA4, ABHD12, AIPL1, ARL2BP, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CACNA1F, CDH23, CDHR1, CEP290, CERKL, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CRB1, CRX, CYP4V2, DFNB31, DHDDS, ECM1, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GRK1, GUCA1B, GUCY2D, HGSNAT, IDH3B, IFT172, IMPDH1, IMPG2, INVS, IQCB1, KIAA1549, KLHL7, LCA5, LRAT, MAK, MERTK, MKKS, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OFD1, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TRIM32, TTC8, TULP1, USH1C, USH2A, WFS1, and ZNF513
    Test Code: 6115
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Retinitis Pigmentosa 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: 81404×6, 81405×1, 81406×6, 81407×2, 81408×4, 81479×92
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Eye Disorders Panel
  • References:
    https://www.genome.gov/13514348/learning-about-retinitis-pigmentosa/
    https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa#inheritance
    http://www.medicinenet.com/retinitis_pigmentosa/article.htm

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