beta-N-acetylhexosaminidase B measurement

Indications

• evaluation of Sandhoff disease

Clinical significance

• defects in HEXB are the cause of Sandhoff disease

More general terms

• beta-N-acetylhexosaminidase measurement

More specific terms

• beta-N-acetylhexosaminidase B in fibroblasts
• beta-N-acetylhexosaminidase B in leukocytes
• beta-N-acetylhexosaminidase B in serum