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Testing and Diagnosis

A diagnosis of Gaucher disease is based on clinical signs and symptoms, medical and family history, and confirmative testing use laboratory assays.

Gaucher disease may also be diagnosed in asymptomatic individuals identified through family screening.1

Prompt and accurate diagnosis of Gaucher disease is essential as effective treatments are available. Documented consequences of misdiagnosed or untreated Gaucher disease include premature death from bleeding complications, pulmonary hypertension, progressive liver disease, sepsis, growth failure in children, complications of advanced bone disease including chronic bone pain and pathologic fractures, and reduced quality of life.2,3

This section describes how to make a diagnosis of Gaucher disease, including the confirmative biochemical tests used.

How to make a diagnosis

How to make a diagnosis

Biochemical testing is always required to confirm diagnosis when there is clinical suspicion of Gaucher disease.

Testing & Screening

Testing & Screening

Learn about the biochemical tests used to diagnose Gaucher disease.

References

  1. 1.Kaplan P, Baris H, De Meirleir L, et al. (2013) Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 172(4): 447-458.
  2. 2.Mistry PK, Sadan S, Yang R, Yee J, Yang M. (2007) Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 82(8): 697-701.
  1. 3.Mistry PK, Cappellini MD, Lukina E, et al. (2011) A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol 86(1): 110-115.