Diagnostic Testing Initiative

Why the Initiative?

In an attempt to decrease the typically lengthy diagnostic journey of those who have Gaucher disease, the NGF has created a clinical testing program for the diagnosis of Gaucher disease and Niemann-Pick A/B disease via enzymatic and molecular analysis for those who have a familial history of either disease or whose physician is considering either lysosomal storage disorders as part of the differential diagnosis.

Please fill out the form below to request your diagnostic testing kit or requisition form. As a reminder, this initiative is solely for patients who are undiagnosed as a part of a physicians’ differential diagnosis.

Specimens must arrive at testing laboratory within forty-eight (48) hours of collection. The lab is open M – F 8am – 5pm EST and has staff available to receive samples on Saturday 10am – 2pm EST. Please note the lab is closed on federal holidays.

About this Diagnostic Test

Quantitative measurement of the enzymatic activity for the specified enzymes (β-glucosidase and acid sphingomyelinase) will be performed. If the enzyme activity is deficient and within the affected range, then the laboratory will automatically reflex to the appropriate molecular testing (GBA gene or SMPD1gene). If enzyme activity is below the normal range, but not within the affected range, sequencing will be considered on a case by case basis.

Targeted mutation analysis can be performed if the familial mutation is available.

Gaucher and Niemann-Pick A/B Diseases at a Glance

Gaucher disease affects approximately 1 in 40,000 live births in the general population. It occurs at an increased frequency in individuals of Eastern European, Ashkenazi, Jewish descent, with a carrier frequency of approximately 1 in 10 and an incidence frequency of 1 in 450. It is a lysosomal storage disorder with variable severity that, if untreated, may result in related Gaucher disease symptoms and signs such as anemia, thrombocytopenia, nosebleeds, hepatosplenomegaly, avascular necrosis, osteopenia and osteoporosis, spontaneous fractures and joint pain. In the more severe and rare forms, Types 2 & 3, the brain and nervous system are involved. Click here to view additional FAQs.

Niemann-Pick A/B (ASMD) disease is also a pan-ethnic lysosomal storage disorder with a higher carrier frequency, ~1 in 90, for those of Ashkenazi Jewish descent. It is characterized by failure to thrive and hematosplenomegaly. More information is available for healthcare providers through the National Niemann-Pick Disease Foundation, Inc.

Questions? Please contact Dr. Robin Ely, Clinical Advisor at robin@gaucherdisease.org.

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