{"title":"Health Tests","description":"\u003cp\u003e\u003cspan\u003eProfessional at-home diagnostic tests designed for fast and reliable health insights.\u003c\/span\u003e\u003c\/p\u003e","products":[{"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"},{"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"},{"product_id":"3-o-methyldopa-3-omd-dried-blood-spot-test","title":"3-O-Methyldopa (3-OMD) — Dried Blood Spot Test","description":"\u003cp\u003eA targeted dried blood spot (DBS) test measuring 3-O-methyldopa (3-OMD) — the primary metabolite of L-DOPA. Used as a screening marker for aromatic L-amino acid\u003cbr\u003edecarboxylase (AADC) deficiency and for monitoring L-DOPA-based therapy in patients with rare neurometabolic conditions. Available to patients and clinicians across the European Union.\u003c\/p\u003e\n\u003ch2\u003eWhat is the 3-OMD test?\u003c\/h2\u003e\n\u003cp\u003e3-O-methyldopa (3-OMD) is a metabolite formed during the metabolism of L-DOPA (levodopa) — a naturally occurring amino acid and the direct precursor to the neurotransmitter dopamine. When the enzyme responsible for converting L-DOPA into dopamine — aromatic L-amino acid decarboxylase (AADC) — is absent or severely deficient, L-DOPA accumulates and is instead converted to 3-OMD via an alternative metabolic pathway. This leads to significantly elevated levels of 3-OMD in the blood.\u003c\/p\u003e\n\u003cp\u003eMeasurement of 3-OMD from a dried blood spot sample provides a rapid, minimally invasive, and highly specific screening marker for AADC deficiency — one of the rarest and most severe inherited neurometabolic disorders.\u003c\/p\u003e\n\u003cp\u003eThe test is performed using liquid chromatography-tandem mass spectrometry (LC-MS\/MS) at our specialist laboratory in Warsaw.\u003c\/p\u003e\n\u003ch2\u003eWhat is AADC deficiency?\u003c\/h2\u003e\n\u003cp\u003eAromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited neurometabolic disorder caused by mutations in the DDC gene. It affects the biosynthesis of monoamine neurotransmitters — dopamine, serotonin, adrenaline, and noradrenaline — which are essential for motor function, autonomic regulation, and neurodevelopment.\u003c\/p\u003e\n\u003cp\u003eAADC deficiency typically presents in infancy with:\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003eSevere hypotonia (low muscle tone)\u003c\/li\u003e\n\u003cli\u003eOculogyric crises — involuntary upward deviation of the eyes\u003c\/li\u003e\n\u003cli\u003eDevelopmental delay and intellectual disability\u003c\/li\u003e\n\u003cli\u003eAutonomic dysfunction (temperature instability, excessive sweating, nasal congestion)\u003c\/li\u003e\n\u003cli\u003eMovement disorders\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003eAADC deficiency is frequently misdiagnosed or diagnosed with significant delay due to its rarity and the overlap of its symptoms with other neurological conditions. Elevated 3-OMD in a dried blood spot sample is a key biochemical indicator of AADC deficiency and should prompt further confirmatory investigation.\u003c\/p\u003e\n\u003ch2\u003eAdditional clinical applications\u003c\/h2\u003e\n\u003cp\u003eMonitoring L-DOPA therapy: In patients with AADC deficiency or other conditions treated with L-DOPA, 3-OMD levels reflect L-DOPA metabolism and can guide dose optimisation.\u003c\/p\u003e\n\u003cp\u003eDifferential diagnosis of movement disorders: Elevated 3-OMD may also be observed in other conditions affecting dopamine metabolism, supporting broader differential diagnostic workups.\u003c\/p\u003e\n\u003ch2\u003eWho is this test for?\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003eInfants or children with suspected AADC deficiency — hypotonia, oculogyric crises, developmental delay of unknown origin\u003c\/li\u003e\n\u003cli\u003ePatients already diagnosed with AADC deficiency — for regular therapeutic\u003cbr\u003emonitoring\u003c\/li\u003e\n\u003cli\u003ePatients on L-DOPA therapy — for treatment monitoring and dose adjustment\u003cbr\u003esupport\u003c\/li\u003e\n\u003cli\u003eClinicians and neurologists investigating neurotransmitter synthesis disorders\u003c\/li\u003e\n\u003cli\u003eClinical geneticists seeking a rapid, non-invasive first-line screening marker\u003c\/li\u003e\n\u003cli\u003eResearchers studying dopamine metabolism or rare neurometabolic conditions\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ctable style=\"width: 101.782531%; height: 315px;\" 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€60\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\u003e3-O-methyldopa (3-OMD)\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\u003e\n\u003ctd style=\"width: 23.255814%;\"\u003e\n\u003cp\u003eTurnaround time\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%;\"\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\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;\"\u003eWhat does an elevated 3-OMD result mean? \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;\"\u003eAn elevated 3-OMD level is a strong biochemical indicator of AADC deficiency. It should always be interpreted by a specialist. Confirmatory testing — including CSF neurotransmitter analysis and genetic testing — is required for a definitive diagnosis.\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 diagnose AADC deficiency on its own? \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;\"\u003eThe 3-OMD DBS test is a highly sensitive screening marker, but confirmation requires additional investigations including CSF neurotransmitter analysis and molecular genetic testing.\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 test suitable for monitoring treatment? \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. In patients receiving L-DOPA therapy, regular 3-OMD monitoring provides valuable information about drug metabolism and can assist in dose optimisation.\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;\"\u003eDo I need a 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 to order a test kit. Given the clinical complexity of AADC deficiency, we strongly recommend results are reviewed by a specialist.\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":61822064918858,"sku":null,"price":60.0,"currency_code":"EUR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1033\/4335\/8282\/files\/DBS.T4.01.04.RD.Uzgory_d2a1989b-69a7-4f3e-9353-d24a20bec9cc.png?v=1783840033"},{"product_id":"lpc-derivatives-vlcfa","title":"LPC Derivatives of Very Long-Chain Fatty Acids (VLCFA) — Dried Blood Spot Test","description":"\u003cp\u003eA specialised dried blood spot (DBS) test measuring lysophosphatidylcholine (LPC)\u003cbr\u003ederivatives of very long-chain fatty acids (VLCFA) — the most sensitive and specific\u003cbr\u003ebiochemical marker for peroxisomal disorders, including X-linked adrenoleukodystrophy (X-ALD), Zellweger spectrum disorder, and related conditions. Available to patients and clinicians across the European Union.\u003c\/p\u003e\n\u003ch2\u003eWhat is the LPC-VLCFA test?\u003c\/h2\u003e\n\u003cp\u003eVery long-chain fatty acids (VLCFA) are fatty acids with carbon chains of 22 carbons or more. Under normal conditions, VLCFA are broken down inside cellular organelles called peroxisomes. When peroxisomal function is impaired — due to inherited genetic defects — VLCFA accumulate in tissues and body fluids, causing progressive and often severe neurological and systemic damage.\u003c\/p\u003e\n\u003cp\u003eThe measurement of lysophosphatidylcholine (LPC) derivatives of VLCFA from a dried blood spot sample represents the current gold standard for peroxisomal disorder screening. LPC- bound VLCFA offer superior analytical sensitivity and specificity compared to traditional free VLCFA measurement, enabling earlier and more reliable detection — even in female carriers of X-linked conditions.\u003c\/p\u003e\n\u003cp\u003eThis test measures three key LPC-VLCFA species:\u003c\/p\u003e\n\u003cul\u003e\n\u003cli\u003eLPC 26:0 — lysophosphatidylcholine with C26:0 (hexacosanoic acid)\u003c\/li\u003e\n\u003cli\u003eLPC 26:1 — lysophosphatidylcholine with C26:1\u003c\/li\u003e\n\u003cli\u003eLPC 24:0 — lysophosphatidylcholine with C24:0 (lignoceric acid)\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003eThe analysis is performed using liquid chromatography-tandem mass spectrometry (LC-MS\/MS) at our specialist laboratory in Warsaw.\u003c\/p\u003e\n\u003ch2\u003eWhich rare diseases can this test detect?\u003c\/h2\u003e\n\u003cp\u003eX-linked adrenoleukodystrophy (X-ALD): The most common peroxisomal disorder, caused by mutations in the ABCD1 gene. X-ALD affects the nervous system and adrenal glands, with clinical presentations ranging from childhood cerebral form (CCALD) to adrenomyeloneuropathy (AMN) in adults, and adrenal insufficiency (Addison disease).\u003c\/p\u003e\n\u003cp\u003eZellweger spectrum disorder (ZSD): A group of severe peroxisome biogenesis disorders caused by mutations in PEX genes, ranging from Zellweger syndrome to neonatal adrenoleukodystrophy and infantile Refsum disease.\u003c\/p\u003e\n\u003cp\u003eACOX1 deficiency: A deficiency of acyl-CoA oxidase 1 — the first enzyme in peroxisomal fatty acid beta-oxidation — leading to VLCFA accumulation and progressive neurological deterioration.\u003c\/p\u003e\n\u003cp\u003eD-bifunctional protein (DBP) deficiency: A severe peroxisomal disorder affecting fatty acid oxidation, presenting in the neonatal period.\u003c\/p\u003e\n\u003ch2\u003eWhy LPC-VLCFA rather than traditional VLCFA testing?\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003eHigher sensitivity — detects affected individuals and carriers with greater reliability\u003c\/li\u003e\n\u003cli\u003eFemale carrier detection — traditional VLCFA testing misses a significant proportion of female X-ALD carriers; LPC-VLCFA substantially improves detection rates\u003c\/li\u003e\n\u003cli\u003eDBS compatibility — enables home-based sample collection and stable postal\u003cbr\u003eshipping\u003c\/li\u003e\n\u003cli\u003eSuitable for newborn screening — used in several national newborn screening\u003cbr\u003eprogrammes in Europe and the USA\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch2\u003eWho is this test for?\u003c\/h2\u003e\n\u003cul\u003e\n\u003cli\u003eMale children with suspected X-ALD — unexplained neurological deterioration, white matter disease on MRI, or adrenal insufficiency\u003c\/li\u003e\n\u003cli\u003eAdult males with progressive spastic paraparesis or adrenomyeloneuropathy of\u003cbr\u003eunknown cause\u003c\/li\u003e\n\u003cli\u003eFemale carriers of X-ALD mutations — for biochemical confirmation\u003c\/li\u003e\n\u003cli\u003eNewborns or infants with suspected Zellweger spectrum disorder\u003c\/li\u003e\n\u003cli\u003ePatients with unexplained progressive leukodystrophy or white matter abnormalities\u003c\/li\u003e\n\u003cli\u003eFamily members of patients with confirmed peroxisomal disorders — for cascade\u003cbr\u003escreening\u003c\/li\u003e\n\u003cli\u003eClinicians and neurologists investigating peroxisomal disease\u003c\/li\u003e\n\u003cli\u003eResearchers studying peroxisomal biology or VLCFA metabolism\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ctable width=\"100%\" style=\"width: 101.782531%; height: 315px;\"\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€130\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\u003eLPC 26:0, LPC 26:1, LPC 24:0\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\u003e\n\u003ctd style=\"width: 23.255814%;\"\u003e\n\u003cp\u003eTurnaround time\u003c\/p\u003e\n\u003c\/td\u003e\n\u003ctd style=\"width: 75.670841%;\"\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\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;\"\u003eWhat does an elevated LPC-VLCFA result mean? \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;\"\u003eElevated LPC-VLCFA levels are a strong biochemical indicator of a peroxisomal disorder, most commonly X-ALD. All abnormal results should be urgently reviewed by a specialist. Confirmatory molecular genetic testing is required for a definitive diagnosis.\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 X-ALD in female carriers? \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 LPC-VLCFA test detects the majority of female X-ALD carriers — a significant advantage over traditional plasma VLCFA testing.\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;\"\u003eMy son has been diagnosed with X-ALD — should his sisters be tested? \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. Female first-degree relatives of males with confirmed X-ALD should be offered carrier testing. LPC-VLCFA from DBS is an appropriate first-line biochemical screening test.\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;\"\u003eDo I need a 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. Given the severity of peroxisomal disorders, we strongly recommend all results are reviewed without delay by a specialist.\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":61832781234506,"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_f006baf7-efc0-4a8f-9fdf-e1c8df60b070.png?v=1783840070"}],"url":"https:\/\/rarediagnostics.eu\/collections\/health-tests.oembed","provider":"Rare Diagnostics","version":"1.0","type":"link"}