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 methylmalonic acidemia or propionic acidemia
Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia
Identifying variants within genes known to be associated with methylmalonic acidemia or propionic acidemia, allowing for predictive testing of at-risk family members
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with methylmalonic aciduria-propionic aciduria: ABCD4, ACSF3, ALDH6A1, AMN, CD320, CUBN, DMGDH, CBLIF, HCFC1, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MMUT, PCCA, PCCB, PRDX1, SUCLA2, SUCLG1, TCN1, TCN2, THAP11, ZNF143. See Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for methylmalonic aciduria and propionic aciduria.
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.