{"product_id":"amino-acid-profile","title":"Amino Acid Profile — Dried Blood Spot Test","description":"\u003cp\u003eA 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.\u003c\/p\u003e\n\u003ch2\u003eWhat is the Amino Acid Profile test?\u003c\/h2\u003e\n\u003cp\u003eAmino 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.\u003c\/p\u003e\n\u003cp\u003eWhen 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.\u003c\/p\u003e\n\u003cp\u003eThe 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.\u003c\/p\u003e\n\u003ch2\u003eWhich rare diseases can this test detect or monitor?\u003c\/h2\u003e\n\u003ch3\u003eAminoacidopathies:\u003c\/h3\u003e\n\u003cul\u003e\n\u003cli\u003ePhenylketonuria (PKU) and hyperphenylalaninaemia\u003c\/li\u003e\n\u003cli\u003eTyrosinaemia type I, II and III\u003c\/li\u003e\n\u003cli\u003eMaple syrup urine disease (MSUD) — branched-chain amino acid metabolism\u003c\/li\u003e\n\u003cli\u003eHomocystinuria (classical and vitamin B6-responsive)\u003c\/li\u003e\n\u003cli\u003eNon-ketotic hyperglycinaemia (NKH \/ glycine encephalopathy)\u003c\/li\u003e\n\u003cli\u003eHyperprolinaemia type I and II\u003c\/li\u003e\n\u003cli\u003eLysinuric protein intolerance (LPI)\u003c\/li\u003e\n\u003cli\u003eCystinuria\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3\u003eUrea cycle disorders (UCDs):\u003c\/h3\u003e\n\u003cul\u003e\n\u003cli\u003eOrnithine transcarbamylase deficiency (OTC deficiency)\u003c\/li\u003e\n\u003cli\u003eArgininosuccinic aciduria (ASA)\u003c\/li\u003e\n\u003cli\u003eCitrullinaemia type I and II\u003c\/li\u003e\n\u003cli\u003eArgininaemia\u003c\/li\u003e\n\u003cli\u003eCarbamyl phosphate synthetase deficiency (CPS1 deficiency)\u003c\/li\u003e\n\u003cli\u003eN-acetylglutamate synthase deficiency (NAGS deficiency)\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3\u003eOther conditions:\u003c\/h3\u003e\n\u003cul\u003e\n\u003cli\u003eHyperammonaemia of various origins\u003c\/li\u003e\n\u003cli\u003eSerine biosynthesis defects\u003c\/li\u003e\n\u003cli\u003eDisorders of sulphur amino acid metabolism\u003c\/li\u003e\n\u003cli\u003eGlutamine synthetase deficiency\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch2\u003eWhat does the test measure?\u003c\/h2\u003e\n\u003cp\u003eThe amino acid profile quantifies 26 amino acids and related metabolites in blood:\u003c\/p\u003e\n\u003cp\u003eAlanine, 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.\u003c\/p\u003e\n\u003cp\u003eOur 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.\u003c\/p\u003e\n\u003ch2\u003eWho is this test for?\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003ePatients with a suspected or confirmed diagnosis of an aminoacidopathy or urea cycle disorder\u003c\/li\u003e\n\u003cli\u003eNewborns or infants with abnormal newborn screening results requiring confirmatory testing\u003c\/li\u003e\n\u003cli\u003eChildren or adults with unexplained developmental delay, intellectual disability, or neurological symptoms\u003c\/li\u003e\n\u003cli\u003ePatients on therapeutic amino acid-restricted diets — for treatment monitoring\u003c\/li\u003e\n\u003cli\u003ePatients with recurrent episodes of hyperammonaemia or unexplained metabolic\u003cbr\u003ecrises\u003c\/li\u003e\n\u003cli\u003eClinicians and geneticists requiring biochemical confirmation or follow-up data\u003c\/li\u003e\n\u003cli\u003eResearchers studying amino acid metabolism or rare metabolic conditions\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ctable style=\"width: 101.782531%; height: 350px;\" width=\"100%\"\u003e\n\u003ctbody\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003e Price\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003e€70\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eSample type\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003eDried blood spot (DBS) — capillary blood\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eCollection method\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003eFingertip lancet (included in kit)\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eAnalytes measured\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003e26 amino acids and related metabolites (full list above)\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eAnalytical method\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003eLC-MS\/MS\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eTurnaround time\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003e10 business days from sample receipt\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eKit delivery\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003e1–2 business days (EU)\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 70px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 70px;\"\u003e\n\u003cp\u003eReport format\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 70px;\"\u003e\n\u003cp\u003ePDF with quantitative results, reference ranges and\u003c\/p\u003e\n\u003cp\u003einterpretation\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.255814%; height: 35px;\"\u003e\n\u003cp\u003eSuitable for\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%; height: 35px;\"\u003e\n\u003cp\u003eAll ages including newborns\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ch2\u003eFrequently Asked Questions\u003c\/h2\u003e\n\u003cdetails style=\"border-bottom: 1px solid #e0e0e0; padding: 12px 0;\"\u003e\n\u003csummary style=\"font-weight: 600; cursor: pointer; list-style: none; display: flex; justify-content: space-between; align-items: center;\"\u003eDo I need a doctor's referral? \u003cspan style=\"font-size: 0.8em; margin-left: 12px; transition: transform 0.3s;\"\u003e▼\u003c\/span\u003e\u003c\/summary\u003e\n\u003cp style=\"margin-top: 10px; line-height: 1.7; color: #3a3a3a;\"\u003eNo referral is required. However, we strongly recommend results are interpreted by a specialist.\u003c\/p\u003e\n\u003c\/details\u003e\n\u003cdetails style=\"border-bottom: 1px solid #e0e0e0; padding: 12px 0;\"\u003e\n\u003csummary style=\"font-weight: 600; cursor: pointer; list-style: none; display: flex; justify-content: space-between; align-items: center;\"\u003eIs this test suitable for monitoring dietary treatment in PKU? \u003cspan style=\"font-size: 0.8em; margin-left: 12px; transition: transform 0.3s;\"\u003e▼\u003c\/span\u003e\u003c\/summary\u003e\n\u003cp style=\"margin-top: 10px; line-height: 1.7; color: #3a3a3a;\"\u003eYes. The amino acid profile is widely used for monitoring phenylalanine and tyrosine levels in patients with phenylketonuria on restricted diets.\u003c\/p\u003e\n\u003c\/details\u003e\n\u003cdetails style=\"border-bottom: 1px solid #e0e0e0; padding: 12px 0;\"\u003e\n\u003csummary style=\"font-weight: 600; cursor: pointer; list-style: none; display: flex; justify-content: space-between; align-items: center;\"\u003eCan this test detect urea cycle disorders? \u003cspan style=\"font-size: 0.8em; margin-left: 12px; transition: transform 0.3s;\"\u003e▼\u003c\/span\u003e\u003c\/summary\u003e\n\u003cp style=\"margin-top: 10px; line-height: 1.7; color: #3a3a3a;\"\u003eYes. Several amino acids — including citrulline, arginine, ornithine, argininosuccinate and glutamine — are key markers for urea cycle disorders.\u003c\/p\u003e\n\u003c\/details\u003e\n\u003cdetails style=\"border-bottom: 1px solid #e0e0e0; padding: 12px 0;\"\u003e\n\u003csummary style=\"font-weight: 600; cursor: pointer; list-style: none; display: flex; justify-content: space-between; align-items: center;\"\u003eCan this test be combined with the acylcarnitine profile? \u003cspan style=\"font-size: 0.8em; margin-left: 12px; transition: transform 0.3s;\"\u003e▼\u003c\/span\u003e\u003c\/summary\u003e\n\u003cp style=\"margin-top: 10px; line-height: 1.7; color: #3a3a3a;\"\u003eYes — and we strongly recommend ordering both tests together when investigating suspected inherited metabolic disorders. Together they provide a comprehensive first-line metabolic screen. Please contact us about combined test ordering.\u003c\/p\u003e\n\u003c\/details\u003e\n\u003cdetails style=\"border-bottom: 1px solid #e0e0e0; padding: 12px 0;\"\u003e\n\u003csummary style=\"font-weight: 600; cursor: pointer; list-style: none; display: flex; justify-content: space-between; align-items: center;\"\u003eI am a clinician — can I order tests for multiple patients? \u003cspan style=\"font-size: 0.8em; margin-left: 12px; transition: transform 0.3s;\"\u003e▼\u003c\/span\u003e\u003c\/summary\u003e\n\u003cp style=\"margin-top: 10px; line-height: 1.7; color: #3a3a3a;\"\u003eYes. We offer institutional and bulk ordering. Please contact us for details.\u003c\/p\u003e\n\u003c\/details\u003e\n\u003cstyle\u003e\n  details[open] summary span { transform: rotate(180deg); display: inline-block; }\n\u003c\/style\u003e\n\u003cp\u003e \u003c\/p\u003e","brand":"Rare Diagnostics","offers":[{"title":"Default Title","offer_id":61821976019274,"sku":null,"price":70.0,"currency_code":"EUR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1033\/4335\/8282\/files\/DBS.T4.01.04.RD.Uzgory_04ca82b3-a874-46ac-9610-0f630d0ce62c.png?v=1783839913","url":"https:\/\/rarediagnostics.eu\/products\/amino-acid-profile","provider":"Rare Diagnostics","version":"1.0","type":"link"}