Gaucher Disease Carrier Testing

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About Our Gaucher Disease Carrier Testing

This blood test will detect carriers of Gaucher disease in the Ashkenazi Jewish population. Enzyme testing is the preferred test to detect affected individuals, not carriers. This DNA testing may be used to confirm affected status.

Gaucher disease is an autosomal recessive disorder caused by a decrease in the levels of the enzyme glucocerebrosidase. Decreased levels of glucocerebrosidase can result in visceral changes, such as enlarged organs, low blood platelet count, and skeletal changes, such as bone lesions.

There are three subtypes of Gaucher disease. Type 1 is the most common subtype. Individuals affected with type 1 may have onset of symptoms in adolescence, though some remain asymptomatic well into adulthood. Type 1 is effectively treated through enzyme replacement therapy.

Common Questions:

Will anyone see my results besides me?

Your results are stored in your secure online account. They are not shared with anyone else. If you choose, you can print or download them to share with your own doctor.

Is this test the same as the glucocerebrosidase enzyme activity test?

No. The glucocerebrosidase enzyme activity test is a different test. Instead of looking at DNA as this carrier test does, it measures how well the enzyme is working and reports a number compared against a reference range. It's mainly used to diagnose people who actually have Gaucher disease, not to find carriers. Carriers can have enzyme levels that overlap with the normal range, which is why DNA testing is used for carrier screening.

Do I need to fast before this test?

Fasting is not required for this panel. You can eat and drink normally unless your doctor has given you other instructions.

Can I use insurance to pay for this test?

In order to ensure your privacy, we do not bill insurance directly, but you may use HSA or FSA funds. This keeps your results and testing completely private from insurers. We can also provide you with an itemized receipt for insurance reimbursement purposes if you need it.

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