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 diagnosis of Pompe disease (as a follow-up to biochemical analyses)
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 skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be performed at an additional charge.
See the following in Special Instructions.
-Newborn Screen Follow-up for Pompe Disease
-Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase
Polymerase Chain Reaction (PCR) followed by DNA Sequencing