" /> Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel:CCnt:Pt:WBC:-: - CISMeF





Preferred Label : Beta-N-acetylhexosaminidase.A & beta-N-acetylhexosaminidase with reflex to HEXA gene panel:CCnt:Pt:WBC:-:;

LOINC status : ACTIVE;

LOINC display name : Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel (WBC) [Catalytic activity/Mass];

LOINC long common name : Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes;

LOINC short name : Hex A & Total w Rflx HEXA Pnl WBC-cCnt;

LOINC 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.;

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28/04/2025


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