beta-N-acetylhexosaminidase A in measurement

Indications

• evaluation of Tay-Sachs disease

Clinical significance

• defects in HEXA are the cause of Tay-Sachs disease

More general terms

• beta-N-acetylhexosaminidase measurement

More specific terms

• beta-N-acetylhexosaminidase A in amniotic fluid
• beta-N-acetylhexosaminidase A in dried blood spot
• beta-N-acetylhexosaminidase A in fibroblasts
• beta-N-acetylhexosaminidase A in leukocytes
• beta-N-acetylhexosaminidase A in serum

Additional terms

• beta N-acetyl hexosaminidase alpha chain (hexosaminidase-A, HEXA)
• HEXA gene mutation; beta-N-acetylhexosaminidase alpha gene mutation