87543-5
LOINC Code
| LOINC code | 87543-5 | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| name | |||||||||
| description | 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. | ||||||||
| status | ACTIVE | ||||||||
Fully-Specified Name | |||||||||
| component | Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel | ||||||||
| property | CCnt = Catalytic Content | ||||||||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||||||||
| system | WBC = Leukocytes | ||||||||
| scale | - | ||||||||
| method | |||||||||
Additional Names | |||||||||
| short name | 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 (alp | ||||||||
Basic Attributes | |||||||||
| class | PANEL.CHEM | ||||||||
| type | 1 Laboratory | ||||||||
| order vs. observation | Hex A & Total w | ||||||||
Panel Components | |||||||||
| |||||||||
History/Usage | |||||||||
| first released | |||||||||
| last updated | 2.63 | ||||||||
| last change type | ADD - added | ||||||||
Related Names | |||||||||
Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, 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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