Amino acid disorders

Comprehensive testing to confirm causes

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 pre-existing panels.

Amino acid disorders test menu

General screening

Biochemical testing


Cystinuria

Biochemical testing

Molecular testing


Homocystinuria

Biochemical testing


Maple syrup urine disease

Biochemical testing

Molecular testing


Nonketotic hyperglycinemia

Biochemical testing


Phenylketonuria

Biochemical testing

Molecular testing


Tyrosinemia

Biochemical testing

Molecular testing


Custom gene ordering

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

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