87543-5LOINC 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