Getting tested for gaucher

It’s not always easy to diagnose Gaucher disease type 1 because its symptoms often mimic other diseases.
Many people are misdiagnosed or assume they have already been tested.

Gaucher disease type 1 is progressive

Although symptoms may be mild at first, they can worsen over time and cause serious damage. Treatment approaches are available to help manage the disease, including oral therapy.

Who should get tested for Gaucher disease?

Talk to your doctor about getting tested:

Signs and symptoms of Gaucher disease

If you or anyone in your family is
experiencing any of the signs and
of Gaucher disease

Ashkenazi Jewish descendents have a higher prevalence of Gaucher disease

If you are of Ashkenazi Jewish
, as Gaucher disease has a
higher prevalence in this population

If a family member has been diagnosed with Gaucher disease, you and your direct relatives should get tested too.

If a family member has been diagnosed
with Gaucher disease, you and your direct
relatives should get tested too

The Gaucher enzyme test is the gold standard for diagnosing Gaucher disease type 1. Your doctor can collect a blood sample and send it to a laboratory for testing at little or no cost* to you.

*Testing is performed at no charge, but local charges may apply for sample collection, processing, or shipping.

Many people assume they have been tested but were not. If you suspect Gaucher disease, get tested today—it’s just a simple blood test.

Please note: a bone marrow exam is neither necessary nor sufficient for diagnosing Gaucher disease; however, your doctor may consider doing a marrow biopsy to evaluate other problems with your bone marrow or spleen.

When a doctor may suspect Gaucher disease

If you have an enlarged spleen
(called splenomegaly)

• The spleen may swell up to 15
times normal size

• The abdomen may protrude,
appearing overweight or pregnant

Your blood platelet count is low
(called thrombocytopenia)

• Lowered ability to form clots

• Increased tendency for bruising and

Your doctor rules out any
blood cancer or disease

(called hematologic malignancies)

Enlarged spleen and low platelet counts are some of the most common symptoms of Gaucher disease but patients may not experience these and may even be asymptomatic
Your doctor can perform a simple blood test for Gaucher disease
After the Diagnosis—Staying Healthy

If you do have a confirmed diagnosis of Gaucher disease type 1, be sure to discuss treatment or disease management options with your doctor as soon as possible. Treatment can help alleviate certain symptoms and may help prevent certain long term complications.

Ally, USA, Gaucher Disease Type 1 Patient

Talk to your doctor

You and your doctor can discuss your symptoms, testing, inheritance and more.


Gaucher disease type 1 can be managed

Treatment is available, including oral therapy.

Learn more about treatment approaches