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. |
Identifying variants within the SGSH, NAGLU, HGSNAT, and GNS genes
Confirmation of a diagnosis of mucopolysaccharidosis type III, also known as Sanfilippo syndrome
Testing can be used to confirm a diagnosis of mucopolysaccharidosis type III, also known as Sanfilippo syndrome
Testing includes sequencing of the SGSH, NAGLU, HGSNAT, and GNS genes.
Test ID | Reporting Name | Available Separately | Always Performed |
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CULFB | Fibroblast Culture for Genetic Test | Yes | No |
If a skin biopsy is received, fibroblast culture will be performed at an additional charge.
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.
Polymerase Chain Reaction (PCR) followed by DNA Sequencing