beta-N-acetylhexosaminidase B in serum

Indications

• evaluation of Sandhoff disease

Clinical significance

• defects in HEXB are the cause of Sandhoff disease

More general terms

• beta-N-acetylhexosaminidase B measurement
• beta-N-acetylhexosaminidase in serum

Additional terms

• beta N-acetyl hexosaminidase beta chain (hexosaminidase-B, HEXB)
• HEXB gene mutation