Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Confirmation of a diagnosis of Gaucher disease
Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified
Testing includes full gene sequencing of the GBA gene.
Risk alleles for Parkinson disease with no known beta-glucocerebrosidase enzyme reduction or Gaucher disease association will only be reported in patients over 18 years old unless otherwise requested.
Test ID | Reporting Name | Available Separately | Always Performed |
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FIBR | Fibroblast Culture | Yes | No |
CRYOB | Cryopreserve for Biochem Studies | No | No |
If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.
See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.
For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.
Polymerase Chain Reaction (PCR) followed by DNA Sequencing