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

Indications

• evaluation of Tay-Sachs disease

Clinical significance

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

More general terms

• analyte ratio

Additional terms

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

Components

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