| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
In addition to serving as the interconnected building blocks of proteins,1 amino acids help form the structure of essential molecular compounds, such as neurotransmitters, hormones, and nucleotides. When amino acid metabolism is dysregulated, the body cannot properly break down certain amino acids or effectively transport the amino acid into cells. This can result in a harmful buildup of substances that leads to potentially life-threatening conditions.
Our molecular and functional biochemical assays for amino acid disorders can assist in diagnosing the most prevalent and treatable conditions, including phenylketonuria, tyrosinemia, and maple syrup urine disease. We also offer custom gene ordering to assess for variants in genes associated with amino acid disorders that aren’t included in preexisting panels.
Amino acid disorders test menu
Biochemical testing
Biochemical testing
Molecular testing
Biochemical testing
Biochemical testing
Molecular testing
Biochemical testing
Biochemical testing
Molecular testing
Biochemical testing
Molecular testing
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing