87543-5

LOINC 2.82

Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes

Hex A & Total w Rflx HEXA Pnl WBC-cCnt

Definition

  • This panel contains quantitative results for beta-hexosaminidase A (HEX A) and total beta-hexosaminidase enzymatic activity in white blood cells (leukocytes) for the carrier detection and diagnosis of Tay-Sachs disease. This test may also be ordered for carrier detection and diagnosis of Sandhoff disease, but not all positive results indicate true carriers of Sandhoff disease so follow-up molecular testing is recommended.

Component

  • Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel

Specimen / system

  • WBC

Class

  • PANEL.CHEM

Property

  • CCnt

Scale

  • -

Related names

  • B; Beta-hexosaminidase subunit alpha; beta-N-acetylhexosaminidase gene; B-NAH; Catalytic Content; Chemistry; GM2 Gangliosidoses; GM2-gangliosidosis; Hex A; Hex A & Total w Rflx HEXA Pnl; Hex B; HEXA; Hexosaminidase; Hexosaminidase A; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; Leukocytes; N-acetyl-beta-glucosaminidase gene; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; Random; Sandhoff disease; Tay Sachs Disease; Tay-Sachs disease; TSD; WBCs; White blood cells

Index terms

  • B
  • B-NAH
  • Beta-hexosaminidase subunit alpha
  • beta-N-acetylhexosaminidase gene
  • Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel
  • Catalytic Content
  • Chemistry
  • GM2 Gangliosidoses
  • GM2-gangliosidosis
  • Hex A
  • Hex A & Total w Rflx HEXA Pnl
  • Hex B
  • HEXA
  • Hexosaminidase
  • Hexosaminidase A
  • hexosaminidase A (alpha polypeptide)
  • hexosaminidase A (alpha polypeptide) gene
  • Leukocytes
  • N-acetyl-beta-glucosaminidase gene
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • Random
  • Sandhoff disease
  • Tay Sachs Disease
  • Tay-Sachs disease
  • TSD
  • WBCs
  • White blood cells