Rare Diagnostics
LPC Derivatives of Very Long-Chain Fatty Acids (VLCFA) — Dried Blood Spot Test
LPC Derivatives of Very Long-Chain Fatty Acids (VLCFA) — Dried Blood Spot Test
⚠️ Important — please read before ordering
The diagnostic services offered on this website are in vitro diagnostic tests intended to provide quantitative information on specific biochemical biomarkers. All results should be interpreted by a qualified healthcare professional — such as a physician, clinical geneticist, or metabolic specialist — in the context of the individual's clinical history and symptoms. These services are intended to support, not replace, medical consultation, diagnosis, or treatment. A positive, negative, or borderline result does not constitute a medical diagnosis. Rarediagnostics.eu is powered by Masdiag Sp. z o.o., a registered medical laboratory (podmiot leczniczy) operating under Polish and EU healthcare regulations.
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A dried blood spot (DBS) test measuring lysophosphatidylcholines (LPCs) containing very long-chain fatty acids. The results can support the investigation of selected peroxisomal disorders, including X-linked adrenoleukodystrophy (X-ALD) and Zellweger spectrum disorder.
The standard home kit is for fingertip sampling only. For newborns and young infants, contact our laboratory before ordering to arrange appropriate collection.
What is the LPC-VLCFA test?
Very 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.
DBS LPC measurements can provide biochemical evidence for selected peroxisomal disorders. Interpretation depends on the clinical context and may require additional biochemical or genetic testing.
This test measures three key LPC-VLCFA species:
- LPC 26:0 — lysophosphatidylcholine with C26:0 (hexacosanoic acid)
- LPC 26:1 — lysophosphatidylcholine with C26:1
- LPC 24:0 — lysophosphatidylcholine with C24:0 (lignoceric acid)
The analysis is performed using liquid chromatography-tandem mass spectrometry (LC-MS/MS) at our specialist laboratory in Warsaw.
Which conditions can this test help investigate?
X-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).
Zellweger 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.
ACOX1 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.
D-bifunctional protein (DBP) deficiency: A severe peroxisomal disorder affecting fatty acid oxidation, presenting in the neonatal period.
Why LPC-VLCFA rather than traditional VLCFA testing?
- LPC measurements can complement the biochemical assessment of suspected peroxisomal disorders.
- For girls and women with suspected X-ALD, specialist-guided ABCD1 genetic testing is the first step.
- DBS compatibility — enables home-based sample collection and stable postal
shipping - Some organised newborn screening programmes use LPC markers. The standard home kit uses fingertip collection.
Who is this test for?
- Male children with suspected X-ALD — unexplained neurological deterioration, white matter disease on MRI, or adrenal insufficiency
- Adult males with progressive spastic paraparesis or adrenomyeloneuropathy of
unknown cause - Girls and women referred by a specialist for additional biochemical assessment
- Newborns or infants with suspected Zellweger spectrum disorder
- Patients with unexplained progressive leukodystrophy or white matter abnormalities
- Family members referred by a specialist for additional biochemical assessment
- Clinicians and neurologists investigating peroxisomal disease
- Researchers studying peroxisomal biology or VLCFA metabolism
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Price |
€130 |
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Sample type |
Dried blood spot (DBS) — capillary blood |
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Collection method |
Fingertip lancet (included in kit) |
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Analytes measured |
LPC 26:0, LPC 26:1, LPC 24:0 |
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Analytical method |
LC-MS/MS |
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Turnaround time |
10 business days from sample receipt |
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Kit delivery |
1–2 business days (EU) |
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Report format |
PDF with quantitative results, reference ranges and interpretation |
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Standard home kit suitable for |
Adults and children for whom fingertip collection is appropriate. For newborns and young infants, contact the laboratory before ordering. |
Frequently Asked Questions
What does an elevated LPC-VLCFA result mean? ▼
Elevated 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.
Can this test detect X-ALD in female carriers? ▼
For girls and women with suspected X-ALD, ABCD1 genetic testing is the first step. LPC measurements can provide additional biochemical information when requested by a specialist.
My son has been diagnosed with X-ALD — should his sisters be tested? ▼
A clinical genetics team can advise whether to test relatives for the familial ABCD1 variant.
Do I need a referral? ▼
No referral is required. Given the severity of peroxisomal disorders, we strongly recommend all results are reviewed without delay by a specialist.
How does it work?
Step 1 — Order your test kit
Order online. Your DBS collection kit will be shipped to your address anywhere in the European Union, typically within 1–2 business days.
Step 2 — Collect and dry your sample
The standard home collection kit is for fingertip sampling only. Use the enclosed lancet only for fingertip collection and follow the instructions included with your kit.
Newborns and young infants: Contact our laboratory before ordering to arrange an appropriate collection procedure. Do not use the enclosed lancet for heel-prick collection.
Allow the collection card to dry for at least 3 hours at room temperature, away from direct sunlight. Make sure it is completely dry before packing.
Step 3 — Register your sample
Before sending your sample to the laboratory, register it using the code supplied with your kit. This links the sample to the person being tested.
Register your sample online
Step 4 — Pack and send your sample
Place the fully dried card in the resealable bag with the desiccant, then put the bag in the enclosed return envelope. Follow the shipping instructions included with your kit to send the sample to our laboratory in Warsaw.
Step 5 — Receive your results
Results are delivered within 10 business days of sample receipt. You will receive a detailed laboratory report with quantitative results and interpretive comments.