Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Establishing a molecular diagnosis for patients with congenital disorders of glycosylation
Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk family members
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for congenital disorders of glycosylation.
Additional first tier testing may be considered/recommended. For more information see Testing Algorithm or Advisory Information sections.
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing