87543-5
LaboratoryBeta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes
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.
LOINC 6-Axis Classification
Component
Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel
Property
CCnt
Time Aspect
Pt
System
WBC
Scale Type
-
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
Hex A & Total w Rflx HEXA Pnl WBC-cCnt
Display Name
Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel (WBC) [Catalytic activity/Mass]
Related Names
Frequently Asked Questions
What is LOINC code 87543-5?
LOINC code 87543-5 identifies "Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes". 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.
What does 87543-5 measure?
This code measures Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel in WBC. It belongs to the PANEL.CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.