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22166 Acylcarnitines, Quantitative (ACRN)

Acylcarnitines, Quantitative (ACRN)
Test Code: ACRNSO
Synonyms/Keywords
​Ref Lab Code: 82413, 2-Methylbutyryl-CoA Dehydrogenase Deficiency, 3-Methylcrotonyl Carboxylase Deficiency, Biotinidase (Multiple Carboxylase) Deficiency, CPT-II (Carnitine Palmitoyl Transferase Deficiency Type II), Electron-Transfer Flavoprotein (ETF) Deficiency, Glutaric Acidemia (GA), Glutaric Acidemia Type I (GA I), Glutaric Acidemia Type II (GA II), Glutaryl-CoA Dehydrogenase (GCDH) Deficiency, Isobutyryl-CoA Dehdrogenase (IBDH) Deficiency, Isovaleric Acidemia (IVA), Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency,
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency), Malonic aciduria, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Methylmalonic Acidemia, Methylmalonic Aciduria (MMA), Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), S/MCHAD (Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase) Deficiency, SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency, Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase (S/MCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2Methyl-3-hydroxybutyryl CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency, 3-Methylglutaconyl-CoA Hydratase Deficiency, Beta-ketothiolase Deficiency, Carnitine-acylcarnitine Translocase (CACT) Deficiency, Formiminoglutamic Aciduria (FIGLU), Formiminotransferase (FIGLU) Deficiency, Holocarboxylase Synthetase Deficiency, Succinyl-CoA Ligase (SUCLA2) Deficiency, SUCLA2 (Succinyl-CoA Ligase) Deficiency, 3-Methylglutaconic Aciduria Type I, 3-Methylglutaconic Aciduria Type 1, Propionic Acidemia (PA)
Useful For
​Diagnosis of fatty acid beta-oxidation disorders and several organic acidurias
 
Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
Plasma​ Sodium-heparin Green Top Tube (GTT)​ EDTA Lavender Top Tube (LTT) or lithium heparin​ 0.1 mL​ 0.04 mL​ ​
Collection Processing Instructions

​Submit sample in a plastic vial.

Draw specimen just prior to a scheduled meal or feeding.

Additional Information:
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Stability Information
Specimen Type Temperature Time
​ ​ ​Plasma​ ​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 64 days​
Ambient ​ 8 days​
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Medical Laboratories​
Monday through Friday​
 2 days​
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)​
Reference Lab
Mayo Clinic Laboratories
Test Information
​Most disorders of fatty acid beta-oxidation and several organic acidurias can be diagnosed by acylcarnitine analysis, as each enzyme deficiency causes the accumulation of specific acyl-CoAs. More than 20 inborn errors of metabolism can be identified using acylcarnitine analysis.
Reference Range Information
Interpretive report
Interpretation
​An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile but are not diagnostic by themselves. The interpretation is based on pattern recognition.
 
Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical (eg, in vitro enzyme assay) or molecular genetic analyses are required.
 
For information on the follow-up of specific acylcarnitine elevations, see Special Instructions for the following algorithms:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​82017 ​ ​ ​ ​
Synonyms/Keywords
​Ref Lab Code: 82413, 2-Methylbutyryl-CoA Dehydrogenase Deficiency, 3-Methylcrotonyl Carboxylase Deficiency, Biotinidase (Multiple Carboxylase) Deficiency, CPT-II (Carnitine Palmitoyl Transferase Deficiency Type II), Electron-Transfer Flavoprotein (ETF) Deficiency, Glutaric Acidemia (GA), Glutaric Acidemia Type I (GA I), Glutaric Acidemia Type II (GA II), Glutaryl-CoA Dehydrogenase (GCDH) Deficiency, Isobutyryl-CoA Dehdrogenase (IBDH) Deficiency, Isovaleric Acidemia (IVA), Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency,
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency), Malonic aciduria, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Methylmalonic Acidemia, Methylmalonic Aciduria (MMA), Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), S/MCHAD (Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase) Deficiency, SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency, Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase (S/MCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2Methyl-3-hydroxybutyryl CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency, 3-Methylglutaconyl-CoA Hydratase Deficiency, Beta-ketothiolase Deficiency, Carnitine-acylcarnitine Translocase (CACT) Deficiency, Formiminoglutamic Aciduria (FIGLU), Formiminotransferase (FIGLU) Deficiency, Holocarboxylase Synthetase Deficiency, Succinyl-CoA Ligase (SUCLA2) Deficiency, SUCLA2 (Succinyl-CoA Ligase) Deficiency, 3-Methylglutaconic Aciduria Type I, 3-Methylglutaconic Aciduria Type 1, Propionic Acidemia (PA)
Ordering Applications
Ordering Application Description
​Centricity ​Acylcarnitines, Qnt, Plasma (ACRN)
​Cerner ​None
​COM ​Acylcarnitines, Qnt, Plasma
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
Plasma​ Sodium-heparin Green Top Tube (GTT)​ EDTA Lavender Top Tube (LTT) or lithium heparin​ 0.1 mL​ 0.04 mL​ ​
Collection Processing

​Submit sample in a plastic vial.

Draw specimen just prior to a scheduled meal or feeding.

Additional Information:
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Stability Information
Specimen Type Temperature Time
​ ​ ​Plasma​ ​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 64 days​
Ambient ​ 8 days​
Useful For
​Diagnosis of fatty acid beta-oxidation disorders and several organic acidurias
 
Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
Reference Range Information
Interpretive report
Interpretation
​An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile but are not diagnostic by themselves. The interpretation is based on pattern recognition.
 
Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical (eg, in vitro enzyme assay) or molecular genetic analyses are required.
 
For information on the follow-up of specific acylcarnitine elevations, see Special Instructions for the following algorithms:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Medical Laboratories​
Monday through Friday​
 2 days​
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)​
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​82017 ​ ​ ​ ​
For most current information refer to the Marshfield Laboratory online reference manual.