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Test for ASMD

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Suspect ASMD? Test to know

Testing can be the first step to appropriate symptom management

ASMD diagnostic testing is a straightforward process, and may get patients the answers they need to begin managing their symptoms appropriately. Over time, ASMD symptoms can progress and lead to increased disease burden and risk of death.1,2

Diagnostic testing for ASMD2 is simple

Patients with ASMD have low ASM enzyme activity
Perform an ASM biochemical enzyme assay on isolated peripheral blood leukocytes, dried blood spots (DBS), or skin fibroblasts*
Low residual ASM activity
ASMD diagnosis confirmed
Additional diagnostic confirmation can be achieved using molecular genetic testing.

Adapted from McGovern MM et al. Genet Med. 2017;19(9):967-974.

*Limitations to DBS testing include the potential effects of anemia and recent transfusions on results. Skin fibroblasts can be used in equivocal cases.

Garret,
Living with ASMD

Guidelines recommend parallel testing for both ASMD and Gaucher disease2,3†

Parallel testing for ASMD and Gaucher disease is recommended by expert guidelines

†Guidelines are based on a consensus of opinion from an international group of experts in ASMD.

‡Genetic testing can also be performed as additional diagnostic confirmation for ASMD. However, gene sequencing should not be a substitute for the biochemical enzyme assay.

Download a list of labs that test for ASMD and
Gaucher disease
ASMD can lead to early mortality
ASMD can lead to
early mortality
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Watch patients' stories and download educational materials
Watch patient stories
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educational materials
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References:
  1. McGovern MM, Avetisyan R, Sanson BJ, Lidove O. Orphanet J Rare Dis. 2017;12(1):41.
  2. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Genet Med. 2017;19(9):967-974.
  3. Mistry PK, Capellini MD, Lukina E, et al. Am J Hematol. 2011;86(1):110-115.