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Autosomal Dominant Retinitis Pigmentosa (adRP)

  • RHO (Rhodopsin)
  • RDS/PRPH2 (Peripherin2)
  • IMPDH1 (IMP Dehydrogenase-1)
  • RP1 (Retinitis Pigmentosa 1)
  • PRPF8 (Precursor mRNA-Processing Factor 8)
  • PRPF3 (Precursor mRNA-Processing Factor 3)
  • PRPF31 (Precursor mRNA-Processing Factor 31)
  • CRX (Cone-Rod Homeobox)
  • BEST1/VMD2 (Bestrophin 1)
Retinitis pigmentosa usually manifests with decline and loss of night vision during adolescence, followed by loss of side vision in young adulthood, and loss of central vision in later life. Common symptoms include night blindness and a decreasing visual field, leading to tunnel vision, legal blindness or, in many cases, complete blindness. Clinical hallmarks are an abnormal fundus with bone-spicule deposits, attenuated retinal vessels, abnormal, diminished, or absent electroretinographic findings. Approximately, 30-40% of cases are inherited as an autosomal dominant trait.

Using genomic DNA obtained from blood in EDTA (1-5mL in lavender top tube), GeneDx can perform bi-directional sequencing (RHO, RDS, IMPDH1, RP1, PRPF8 and PRPF31 genes) and deletion testing analysis (PRPF31 gene) as sequential tiered testing. Tiered testing is expected to yield a high detection rate (56%) of patients with non-syndromic adRP. In addition full sequencing of the entire coding sequence of the PRPF3, CRX and BEST1 genes is also available at GeneDx, and it is expected to detect mutations in up to 6% of adRP patients. Alternatively, any of these 9 genes can be ordered separately.

Test Code Sequential tiered testing (sensitive and cost-effective testing) Mutation detection rate in adRP Price Turn-Around-Time
2971 Tier 1 RHO entire gene (ex 1-5), RDS entire gene (ex 1-3), IMPDH1 (exon 10), RP1 (aa 500-790), PRPF8 (last exon) ~42-46% $1,620 8 weeks
2975 Tier 2 PRPF31 sequencing and deletion/duplication testing ~6-9% $1,870 8-10 weeks
2973 Tier 3 IMPDH1 (exons 1-9 and 11-17) <1% $1,500 8-10 weeks


Information Sheet, including prices and CPT codes (adRP)  
Information Sheet, including prices and CPT codes (CRX)  
Consent Document (adRP)  
Consent Document (CRX) Back to the List
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  


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