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 preexisting panels.
Amino acid disorders test menu
General screening
Biochemical testing
- AAQP | Amino Acids, Quantitative, Plasma
- AAPD | Amino Acids, Quantitative, Random, Urine
- AACSF | Amino Acids, Quantitative, Spinal Fluid
- ACRN | Acylcarnitines, Quantitative, Plasma
- AGU20 | Acylglycines, Quantitative, Random, Urine
- OAU | Organic Acids Screen, Random, Urine
- TRYPP | Tryptophan, Plasma
- TRYPU | Tryptophan, Random, Urine
Cystinuria
Biochemical testing
- CYSQN | Cystinuria Profile, Quantitative, 24 Hour, Urine
- CYSR | Cystinuria Profile, Quantitative, Random, Urine
Molecular testing
Homocystinuria
Biochemical testing
- CMMPP | Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
- CMMPS | Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
- HCYSP | Homocysteine, Total, Plasma
- HCYSS | Homocysteine, Total, Serum
Maple syrup urine disease
Biochemical testing
- ALLOI | Allo-isoleucine, Blood Spot
- AAMSD | Amino Acids, Maple Syrup Urine Disease Panel, Plasma
- MSUSC | Branched-Chain Amino Acids, Self-Collect, Blood Spot
Molecular testing
Nonketotic hyperglycinemia
Biochemical testing
- AAQP | Amino Acids, Quantitative, Plasma
- Note: Plasma and spinal fluid specimens must be collected concurrently to establish a diagnosis of nonketotic hyperglycinemia.
- AACSF | Amino Acids, Quantitative, Spinal Fluid
- Note: Plasma and spinal fluid specimens must be collected concurrently to establish a diagnosis of nonketotic hyperglycinemia.
Phenylketonuria
Biochemical testing
- PKU | Phenylalanine and Tyrosine, Plasma
- PKUBS | Phenylalanine and Tyrosine, Blood Spot
- PKUSC | Phenylalanine and Tyrosine, Self-Collect, Blood Spot
Molecular testing
Tyrosinemia
Biochemical testing
- TYRBS | Tyrosinemia Follow Up Panel, Blood Spot
- TYRSC | Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot
- SUAC | Succinylacetone, Blood Spot
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