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 congenital lactic acidosis
Establishing a molecular diagnosis for patients with congenital lactic acidosis
Identifying variants within genes known to be associated with congenital lactic acidosis, allowing for predictive testing of at-risk family members
See Method Description for additional details.
Additionally, mitochondrial genome sequencing including amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LRPCR) followed by sequencing on the NGS platform is included to evaluate for variants within the mitochondrial genome.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for disorders causing congenital lactic acidosis.
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/Long-Range Polymerase Chain Reaction (L-RPCR) followed by Next-Generation Sequencing (NGS)