Bothnia retinal dystrophy

Bothnia retinal dystrophy (BRD) is an atypical variant of retinitis pigmentosa diagnosed in individuals who reside in northern Sweden, north of the Gulf of Bothnia, and is historically known as Bothnia Occidentalis. BRD is characterized by severe night blindness in early childhood, retinitis punctata albescens, macular degeneration, and a predilection to develop an atrophic-appearing macular lesion in older age

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plans
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified.


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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