Cone Rod Dystrophies Panel

Cone Rod Dystrophies Panel

  • Cone rod dystrophies are a group of rare eye disorders that affect the cone cells of the retina. Initially cone dysfunction appears and then is often followed by rod dysfunction (1). Symptoms of cone dysfunction include loss of visual acuity, photophobia (light intolerance), and progressive color vision loss. Age of onset, progression and severity of cone dystrophy can vary greatly from one person to another. Cone rod dystrophies can occur randomly and sporadically while other forms are inherited as an autosomal dominant, autosomal recessive or X-linked recessive trait (2, 3). Cone dystrophy affects males and females in equal numbers and though the exact incidence of cone dystrophy is not known, it is approximated at 1 in 30,000 individuals (3). Although there is no cure for cone dystrophy, genetic testing and counseling is recommended for both the patients and their families to better understand the disease.
  • Genes (30): ABCA4, ADAM9, AIPL1, BEST1, C21orf2, C8ORF37, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, ELOVL4, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RDH5, RIMS1, RPGR, RPGRIP1, SEMA4A, and UNC119
    Test Code: 7025
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Cone Rod Dystrophies 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: 81404×2, 81406×1, 81408×1, 81479×26
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Eye Disorders Panel
  • References:
    1. http://disorders.eyes.arizona.edu/disorders/cone-rod-dystrophies-ad-and-ar
    2. https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy
    3. http://rarediseases.org/rare-diseases/cone-dystrophy/

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