{"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\/products\/lpc-derivatives-vlcfa","provider":"Rare Diagnostics","version":"1.0","type":"link"}