Quantitative profiling of 23 acylcarnitine species covering short-, medium-, and long-chain forms. Performed by LC-MS/MS from dried blood spot.
23 acylcarnitines
3–5 working days
This panel enables detection and monitoring of inborn errors of metabolism affecting fatty acid oxidation, organic acid metabolism, and the carnitine shuttle system.
Clinical indications include:
| Analyte / Group | Components | Clinical Significance |
|---|---|---|
| Free carnitine (C0) | L-carnitine | Carrier molecule for fatty acid transport into mitochondria |
| Short-chain (C2–C5) | Acetylcarnitine, propionylcarnitine, and others | Reflect short-chain fatty acid and organic acid metabolism |
| Medium-chain (C6–C12) | Hexanoylcarnitine through dodecanoylcarnitine | Elevated in MCAD and other medium-chain oxidation defects |
| Long-chain (C14–C18:1) | Palmitoylcarnitine, oleoylcarnitine, and others | Elevated in VLCAD, LCHAD, and carnitine transport defects |
Acylcarnitines are formed when carnitine conjugates with acyl-CoA intermediates of fatty acid and organic acid metabolism. Their profile in blood provides a metabolic snapshot of mitochondrial function, particularly fatty acid beta-oxidation.
Individual acylcarnitine species measured simultaneously
Core component of expanded newborn screening programmes
Reflects mitochondrial fatty acid oxidation capacity
Acylcarnitine profiling is a cornerstone of newborn screening programmes worldwide. Characteristic elevations of specific acylcarnitine species can identify disorders such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and multiple acyl-CoA dehydrogenase deficiency (MADD) before clinical symptoms manifest.
Beyond newborn screening, acylcarnitine profiling supports diagnosis of organic acidurias, carnitine transport defects, and secondary carnitine deficiency associated with medications such as valproic acid or pivalic acid-containing antibiotics.
The test is performed using flow-injection analysis with tandem mass spectrometry (FIA-MS/MS), the standard approach used in newborn screening laboratories worldwide. Butylated acylcarnitine esters are analysed by precursor ion and neutral loss scanning, providing rapid, multiplexed quantification of all 23 species.
DBS is the standard matrix for acylcarnitine profiling, enabling integration with existing newborn screening workflows and remote collection for monitoring purposes.
From enquiry to results in a few simple steps — no clinic visit required.
This test is available to healthcare professionals, wellness brands, clinics, and research institutions worldwide. We currently serve partners in:
Whether you need testing services for your patients, white-label kits for your brand, or method transfer to your own laboratory — get in touch to discuss how we can work together.
Acylcarnitine profiling is the quantification of 23 acylcarnitine species from a dried blood spot (DBS) sample, covering short-, medium-, and long-chain forms. It is used to screen for fatty acid oxidation defects, carnitine transport disorders, and organic acidurias. Acylcarnitine profiling is a cornerstone of expanded newborn screening programmes worldwide.
Many fatty acid oxidation disorders are life-threatening but treatable if detected early. Acylcarnitine patterns provide specific diagnostic signatures for conditions like MCAD deficiency, VLCAD deficiency, and carnitine shuttle defects. Without screening, affected children may present with hypoketotic hypoglycaemia, metabolic crises, or sudden death.
A simple finger-prick or heel prick is used to collect a few drops of blood onto a dried blood spot (DBS) card. No venous blood draw is required, and the DBS card can be posted to our laboratory by regular mail from anywhere in the world.
Results are typically delivered within 3 to 5 working days from the time your sample arrives at our laboratory. The analysis is performed by LC-MS/MS, providing accurate quantification of all 23 acylcarnitine species.
The panel can detect MCAD, VLCAD, LCHAD, and SCAD deficiencies; carnitine palmitoyltransferase I and II (CPT I/II) deficiency; carnitine-acylcarnitine translocase (CACT) deficiency; glutaric aciduria type II (multiple acyl-CoA dehydrogenase deficiency); and several organic acidurias including propionic and methylmalonic acidaemia.
Masdiag's acylcarnitine profiling test is available worldwide through our partner network. We currently serve healthcare professionals, newborn screening programmes, and clinics in Europe, the United Kingdom, Asia, Australia, New Zealand, and the United States. Contact us to discuss testing services or method transfer.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.