Okulokutaner Albinismus (OCA)

Okulokutaner Albinismus (OCA) Panel

Diagnostik
- Material
  
  2.7 ml EDTA, bitte separates Röhrchen
- Methode
  
  Next Generation Sequencing (NGS)
- Dauer
  
  8 - 12 Wochen
- Genanzahl
  
  33
- Gene
  - AP3B1 ,
  - AP3D1 ,
  - APBA2 ,
  - ATP10A ,
  - BLOC1S3 ,
  - BLOC1S5 ,
  - BLOC1S6 ,
  - CHRNA7 ,
  - DCT ,
  - DTNBP1 ,
  - GABRB3 ,
  - GPR143 ,
  - HPS1 ,
  - HPS3 ,
  - HPS4 ,
  - HPS5 ,
  - HPS6 ,
  - LRMDA ,
  - LYST ,
  - MC1R ,
  - MLPH ,
  - MYO5A ,
  - OCA2 ,
  - RAB27A ,
  - SGMS2 ,
  - SHANK3 ,
  - SLC24A5 ,
  - SLC45A2 ,
  - TJP2 ,
  - TRPM1 ,
  - TYR ,
  - TYRP1 ,
  - UBE3A
Hinweise / Bemerkungen
Akkreditierung

nicht akkreditiertes Verfahren
Stand

30. Januar 2024