beta-N-acetylhexosaminidase A in amniotic fluid

Indications

• evaluation of Tay-Sachs disease

Clinical significance

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

More general terms

• beta-N-acetylhexosaminidase A in measurement
• beta-N-acetylhexosaminidase in amniotic fluid

Additional terms

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

Component of

• beta-N-acetylhexosaminidase A/beta-N-acetylhexosaminidase in amniotic fluid