{"product_id":"acylcarnitine-profile","title":"Acylcarnitine Profile — Dried Blood Spot Test","description":"\u003cp style=\"text-align: center;\"\u003e \u003c\/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eA comprehensive acylcarnitine profile analysed from a single dried blood spot (DBS) collected at home. Used in the diagnosis and monitoring of fatty acid oxidation disorders, organic acidemias, and other inherited metabolic conditions. Suitable for all ages including newborns. Available to patients and clinicians across the European Union.\u003c\/span\u003e\u003c\/p\u003e\n\u003ch2 style=\"text-align: center;\"\u003e\u003cspan\u003eWhat is the Acylcarnitine Profile test?\u003c\/span\u003e\u003c\/h2\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eThe acylcarnitine profile is one of the most important biochemical tests in the diagnosis of inherited metabolic disorders (IMD). It measures the levels of carnitine and its esters — acylcarnitines — in the blood, providing a detailed picture of how the body processes fats and certain amino acids at the cellular level.\u003c\/span\u003e\u003c\/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eCarnitine plays a critical role in human metabolism. It acts as a transporter, carrying long- chain fatty acids into the mitochondria — the cell’s energy-producing structures — where they are broken down to generate energy. When specific enzymes in this process are absent or deficient, characteristic acylcarnitines accumulate in the blood. These patterns serve as precise biochemical markers that allow our laboratory to identify which metabolic pathway is affected.\u003c\/span\u003e\u003c\/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eThis test is performed using liquid chromatography-tandem mass spectrometry (LC-MS\/MS) — the gold standard analytical technique in metabolic diagnostics, offering exceptional sensitivity and specificity.\u003c\/span\u003e\u003c\/p\u003e\n\u003ch2 style=\"text-align: center;\"\u003e\u003cspan\u003eWhich rare diseases can this test detect or monitor?\u003c\/span\u003e\u003c\/h2\u003e\n\u003ch3 style=\"text-align: center;\"\u003e\u003cspan\u003eFatty acid oxidation disorders (FAODs):\u003c\/span\u003e\u003c\/h3\u003e\n\u003cul style=\"text-align: center;\"\u003e\n\u003cli\u003e\u003cspan\u003eMCAD deficiency (Medium-chain acyl-CoA dehydrogenase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eVLCAD deficiency (Very long-chain acyl-CoA dehydrogenase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eLCHAD deficiency (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eSCAD deficiency (Short-chain acyl-CoA dehydrogenase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eCPT-I and CPT-II deficiency (Carnitine palmitoyltransferase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eCACT deficiency (Carnitine-acylcarnitine translocase deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\n\u003cspan\u003eMultiple acyl-CoA dehydrogenase deficiency (MADD \/ Glutaric aciduria type II)\u003c\/span\u003e\u003cspan\u003e\u003c\/span\u003e\u003cspan\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 style=\"text-align: center;\"\u003e\n\u003cspan\u003e\u003c\/span\u003e\u003cbr\u003e\n\u003c\/h3\u003e\n\u003ch3 style=\"text-align: center;\"\u003e\u003cspan\u003eOrganic acidemias:\u003cbr\u003e\u003c\/span\u003e\u003c\/h3\u003e\n\u003cul style=\"text-align: center;\"\u003e\n\u003cli\u003e\u003cspan\u003ePropionic acidemia (PA)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eMethylmalonic acidemia (MMA)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eIsovaleric acidemia (IVA)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eGlutaric aciduria type I (GA-I)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003e3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\n\u003cspan\u003e3-Methylglutaconic aciduria\u003c\/span\u003e\u003cspan\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch3 style=\"text-align: center;\"\u003e\u003cspan\u003eCarnitine metabolism disorders:\u003c\/span\u003e\u003c\/h3\u003e\n\u003cul style=\"text-align: center;\"\u003e\n\u003cli\u003e\u003cspan\u003ePrimary carnitine deficiency (Systemic carnitine deficiency)\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\n\u003cspan\u003eSecondary carnitine deficiency\u003c\/span\u003e\u003cspan\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eThis test is also valuable for monitoring patients with known diagnoses, assessing dietary compliance, and evaluating the effectiveness of carnitine supplementation or dietary management.\u003c\/span\u003e\u003c\/p\u003e\n\u003ch2 style=\"text-align: center;\"\u003e\u003cspan\u003eWhat does the test measure?\u003c\/span\u003e\u003c\/h2\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cspan\u003eThe acylcarnitine profile quantifies free carnitine and 23 acylcarnitine species:\u003cbr\u003eC0 (free carnitine), C2 (acetylcarnitine), C3 (propionylcarnitine), C3DC (malonylcarnitine), C4 (butyrylcarnitine \/ isobutyrylcarnitine), C4-OH (3-hydroxybutyrylcarnitine \/ 3-hydroxyisobutyrylcarnitine), C4DC (methylmalonylcarnitine \/ succinylcarnitine), C5:1 (tiglylcarnitine \/ methylcrotonylcarnitine), C5 (isovalerylcarnitine \/ valerylcarnitine \/ 2-methylbutyrylcarnitine \/ pivaloylcarnitine), C5-OH (3-hydroxyisovalerylcarnitine \/ 2-methyl-3-hydroxybutyrylcarnitine), C5DC (glutarylcarnitine), C6 (hexanoylcarnitine), C6DC (adipylcarnitine \/ methylglutarylcarnitine), C8 (octanoylcarnitine), C10:2 (decadienoylcarnitine), C10 (decanoylcarnitine), C12 (dodecanoylcarnitine), C14 (myristoylcarnitine), C14:1 (tetradecenoylcarnitine), C16 (palmitoylcarnitine), C16-OH (3-hydroxypalmitoylcarnitine), C18:1 (oleoylcarnitine), C18 (stearoylcarnitine), C18-OH (3-hydroxystearoylcarnitine).\u003c\/span\u003e\u003c\/p\u003e\n\u003ch2 style=\"text-align: center;\"\u003e\u003cspan\u003eWho is this test for?\u003c\/span\u003e\u003c\/h2\u003e\n\u003cul style=\"text-align: center;\"\u003e\n\u003cli\u003e\u003cspan\u003ePatients with a suspected or confirmed diagnosis of a fatty acid oxidation disorder or organic acidemia\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003e Children or adults experiencing episodes of hypoglycaemia, muscle weakness, or metabolic crises of unknown origin\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003ePatients on carnitine supplementation therapy — for treatment monitoring\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eNewborns or infants with abnormal newborn screening results requiring confirmatory testing\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003ePatients already diagnosed with an IMD — for ongoing disease monitoring\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eClinicians and geneticists requiring biochemical confirmation or follow-up data\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\n\u003cspan\u003eResearchers studying fatty acid metabolism or organic acid disorders\u003c\/span\u003e\u003cspan\u003e\u003c\/span\u003e\n\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ctable style=\"width: 101.782531%; height: 315px; margin-left: auto; margin-right: auto;\" width=\"100%\"\u003e\n\u003ctbody\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003e Price\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; height: 35px;\"\u003e\n\u003cp\u003e€130\u003c\/p\u003e\n\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr style=\"height: 35px;\"\u003e\n\u003ctd style=\"width: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eSample type\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eCollection method\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eAnalytical method\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eTurnaround time\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eKit delivery\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 70px;\"\u003e\n\u003cp\u003eReport format\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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: 23.198594%; height: 35px;\"\u003e\n\u003cp\u003eSuitable for\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.746924%; 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 style=\"text-align: center;\"\u003e \u003c\/p\u003e\n\u003cp style=\"text-align: center;\"\u003e \u003c\/p\u003e\n\u003ch2 style=\"text-align: center;\"\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 to order this test? \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 to order a test kit. However, we strongly recommend that results are interpreted in consultation with a physician, clinical geneticist, or metabolic 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 the DBS collection method suitable for newborns? \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. Blood can be collected from the heel of a newborn using the lancet provided. This is the same technique used in national newborn screening programmes worldwide.\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;\"\u003eHow do I ship the sample internationally? \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;\"\u003eDried blood spot samples are stable at room temperature and can be sent by standard post or courier without refrigeration. Detailed shipping instructions are included in every kit.\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 used to monitor a known diagnosis? \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 acylcarnitine profile is widely used for ongoing monitoring of patients with fatty acid oxidation disorders and organic acidemias, as well as for assessing carnitine supplementation therapy.\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;\"\u003eHow will I receive my results? \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;\"\u003eResults are delivered as a PDF report sent to the email address provided at the time of 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 for clinicians and research institutions. 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":61540838900042,"sku":null,"price":130.0,"currency_code":"EUR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1033\/4335\/8282\/files\/DBS.T4.01.04.RD.Uzgory.png?v=1783839852","url":"https:\/\/rarediagnostics.eu\/products\/acylcarnitine-profile","provider":"Rare Diagnostics","version":"1.0","type":"link"}