BEST1 (VMD2) Gene / Best Vitelliform Macular Dystrophy / BEST1- Related Disorders

Test details
Genes
  • BEST1
Medical Speciality
  • Eye Disorders
Disorders
  • Best Vitelliform Macular Dystrophy
  • Bestrophinopathy, Autosomal Recessive
  • Foveomacular Vitelliform Dystrophy, Adult-onset
  • Macular Dystrophy, Autosomal Dominant
  • Retinitis Pigmentosa, Autosomal Dominant (adRP)
  • Vitreoretinochoroidopathy, Autosomal Dominant
Clinical Utility
  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis
Ordering
Test Code GD403
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
  • 743.56 OTHER RETINAL CHANGES CONGENITAL
  • 362.74 PIGMENTARY RETINAL DYSTROPHY
  • 743.9 UNSPECIFIED ANOMALY OF EYE CONGENITAL
  • 362.75 OTHER DYSTROPHIES PRIMARILY INVOLVING THE SENSORY RETINA
  • 743.55 CONGENITAL MACULAR CHANGES
MORE TEST DETAILS
https://www.genedx.com/test-catalog/available-tests/best1-gene-sequencing/