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Retinitis Pigmentosa, X-linked

X-linked Retinitis Pigmentosa (XLRP) affects 10-20% of families with retinitis pigmentosa. This particular form of RP is rather severe in that affected males show first symptoms, such as night blindness and lack of dark adaptation, already within the first decade of life. In the second decade, patients usually have a reduced visual field and visual [...]

+ Mutation-specific testing   + Prenatal testing

X-linked Retinitis Pigmentosa (XLRP) affects 10-20% of families with retinitis pigmentosa. This particular form of RP is rather severe in that affected males show first symptoms, such as night blindness and lack of dark adaptation, already within the first decade of life. In the second decade, patients usually have a reduced visual field and visual acuity, followed by complete blindness by the third or fourth decade of life. Female carriers may also be affected with a milder form of disease with peripheral pigmentary changes in the retina.

+ Mutation-specific testing   + Prenatal testing

Tests Available

RP2 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RP2
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Identification of female carriers for a mutation with a mild phenotype
  • Establish the mode of inheritance
  • Prenatal diagnosis in at risk pregnancies
  • Pre-symptomatic testing
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
326
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$890.00
Billing Information:
View Billing Policy
ICD Codes:
  • 743.55: Congenital macular changes
  • 362.76: Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 743.53: Chorioretinal degeneration, congenital
  • 743.56: Other retinal changes, congenital
  • 362.75: Other dystrophies
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa

REFERENCES

  1. Dandekar et al (2004) Br J Ophthalmol 88:528-532
  2. Prokisch et al., (2007) Investigative Ophthalmology & Visual Science 48:4012-4018
  3. Sharon et al. (2003) Am. J. Hum. Genet. 73:1131-1146
  4. Garcia-Hoyos et al., (2006) Investigative Ophthalmology & Visual Science 47:3777-3782
  5. Jin et al., (2006) Molecular Vision 12:1167-1174

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