PRPH2 (RDS) Gene / Autosomal Dominant Retinitis Pigmentosa (adRP) / Autosomal Dominant Macular Dystr

Test details
Genes
  • RDS (PRPH2)
Medical Speciality
  • Eye Disorders
Disorders
  • Cone-Rod Dystrophy, Autosomal Dominant
  • Macular Dystrophy, Autosomal Dominant
  • Retinitis Pigmentosa, Autosomal Dominant (adRP)
Clinical Utility
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
Ordering
Test Code GD299
Turn Around Time 3 weeks
Collection Instructions LAV: Fill lavender-top (EDTA) tube completely, invert 8-10 times. DO NOT SHAKE TUBE!
BILLING
ICD CODES
  • 362.74 PIGMENTARY RETINAL DYSTROPHY
MORE TEST DETAILS
https://www.genedx.com/test-catalog/available-tests/rds-prph2-gene-sequencing