Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes   87543-5

LOINC Code


LOINC code87543-5
nameBeta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes
descriptionThis 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.
statusACTIVE

Fully-Specified Name

componentBeta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel
propertyCCnt  =  Catalytic Content
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemWBC  =  Leukocytes
scale-
method

Additional Names

short nameHex A & Total w Rflx HEXA Pnl WBC-cCnt

Basic Attributes

classPANEL.CHEM
type1  Laboratory
order vs. observationOrder

Panel Components

50759-0Beta-N-acetylhexosaminidase.A [Enzymatic activity/mass] in Leukocytes
24075-4Beta-N-acetylhexosaminidase [Enzymatic activity/mass] in Leukocytes
23825-3Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Leukocytes
51773-0HEXA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.63
last change typeADD  - added

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

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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