Amino Acid Profile — Dried Blood Spot Test

A comprehensive amino acid profile analysed from a single dried blood spot (DBS) collected at home. Used in the diagnosis and monitoring of aminoacidopathies, urea cycle disorders, and other inherited metabolic conditions affecting amino acid metabolism. Suitable for all ages including newborns. Available to patients and clinicians across the European Union.

What is the Amino Acid Profile test?

Amino acids are the fundamental building blocks of life. They are involved in virtually every biological process in the human body — from the production of proteins, hormones and neurotransmitters, to the detoxification of ammonia, the regulation of blood sugar, and the support of immune function.

When inherited defects affect the enzymes responsible for amino acid metabolism, characteristic amino acids accumulate or become depleted in the blood. These biochemical patterns serve as precise diagnostic markers, allowing our laboratory to identify specific rare metabolic conditions with high accuracy.

The amino acid profile measures the levels of 26 individual amino acids in a single dried blood spot sample, using liquid chromatography-tandem mass spectrometry (LC-MS/MS) — the gold standard analytical technique in metabolic diagnostics.

Which rare diseases can this test detect or monitor?

Aminoacidopathies:

• Phenylketonuria (PKU) and hyperphenylalaninaemia
• Tyrosinaemia type I, II and III
• Maple syrup urine disease (MSUD) — branched-chain amino acid metabolism
• Homocystinuria (classical and vitamin B6-responsive)
• Non-ketotic hyperglycinaemia (NKH / glycine encephalopathy)
• Hyperprolinaemia type I and II
• Lysinuric protein intolerance (LPI)
• Cystinuria

Urea cycle disorders (UCDs):

• Ornithine transcarbamylase deficiency (OTC deficiency)
• Argininosuccinic aciduria (ASA)
• Citrullinaemia type I and II
• Argininaemia
• Carbamyl phosphate synthetase deficiency (CPS1 deficiency)
• N-acetylglutamate synthase deficiency (NAGS deficiency)

Other conditions:

• Hyperammonaemia of various origins
• Serine biosynthesis defects
• Disorders of sulphur amino acid metabolism
• Glutamine synthetase deficiency

What does the test measure?

The amino acid profile quantifies 26 amino acids and related metabolites in blood:

Alanine, Arginine, Asparagine, Beta-alanine, Citrulline, Phenylalanine, Glycine, Glutamine, Histidine, Homoarginine, Isoleucine, Aspartic acid, Gamma-aminobutyric acid (GABA), Glutamic acid, Leucine, Lysine, Methionine, Ornithine, Proline, Sarcosine, Serine, Taurine, Threonine, Tryptophan, Tyrosine, Valine.

Our panel includes several analytes not routinely measured by general laboratories, such as GABA, beta-alanine, sarcosine and taurine — providing a more complete picture of amino acid metabolism and a diagnostic advantage in complex or atypical presentations.

Who is this test for?

• Patients with a suspected or confirmed diagnosis of an aminoacidopathy or urea cycle disorder
• Newborns or infants with abnormal newborn screening results requiring confirmatory testing
• Children or adults with unexplained developmental delay, intellectual disability, or neurological symptoms
• Patients on therapeutic amino acid-restricted diets — for treatment monitoring
• Patients with recurrent episodes of hyperammonaemia or unexplained metabolic
  crises
• Clinicians and geneticists requiring biochemical confirmation or follow-up data
• Researchers studying amino acid metabolism or rare metabolic conditions

Frequently Asked Questions