Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD)
Establishing a molecular diagnosis for patients with MSUD
Identifying variants within genes known to be associated with MSUD, allowing for predictive testing of at-risk family members
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 6 genes associated with maple syrup urine disease: BCKDHA, BCKDHB, BCKDK, DBT, DLD, PPM1K. See Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for maple syrup urine disease.
Additional first tier testing may be considered/recommended. For more information see Advisory Information.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.