Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Second-tier test for confirming a diagnosis of Krabbe disease
Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
Testing includes full gene sequencing of the GALC gene.
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
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.
The following are available in Special Instructions:
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
Polymerase Chain Reaction (PCR) followed by DNA Sequencing