Genotype Services

The Gaucher Registry is attempting to obtain complete genotyping on patients with Gaucher disease who are enrolled in the Gaucher Registry. This project has potential value for genetic counseling purposes by obtaining accurate information on the following:

• the frequency of mutations within various ethnic groups
• the potential correlation of certain mutations with severity of disease or organ involvement
• the potential correlation of disease response parameters to enzyme replacement therapy

The Gaucher Registry offers a genotyping service; evaluating the ß-glucocerebrosidase gene for mutations. This service is offered for patients who have been previously diagnosed with Gaucher disease, who are enrolled or who agree to be enrolled in the Gaucher Registry and:

• who have not been genotyped; or
• who have been genotyped but still have one or both alleles unknown.

Please note this service is not for diagnostic purposes. The testing will be performed at the University of Washington Molecular Development Laboratory in Seattle, Washington. Results will be sent to the requestor in 4-8 weeks of receipt. The genotype results will also be provided to the Gaucher Registry where they will be entered into the Registry database in the usual confidential manner.

If you are interested in taking advantage of this service, please refer to the following procedures for utilization.

Gaucher Registry Genotyping Service*
for Patients Enrolled in the Gaucher Registry

*Service offered for previously diagnosed patients enrolled in the Gaucher Registry who have not been genotyped or who have but still have one or both alleles unknown.

Download Request for Mutation Analysis Form (PDF)

Gaucher Registry Genotyping Service*
for Patients who agree to be Enrolled in the Registry

*Service offered for previously diagnosed patients enrolled in the Gaucher Registry who have not been genotyped or who have but still have one or both alleles unknown.

Download Request for Mutation Analysis Form (PDF)