Acylcarnitine Profile

Omics test Model
Test Code B0210
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved No
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test Code: B0210
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General Biochemical and Molecular Requisition Form

Test Description

An acylcarnitine biochemical profile is performed for detection of disorders of fatty acid oxidation and organic acidurias.

Indications for Testing

Acylcarnitines are metabolites involved with fatty acid oxidation and organic acidurias. This test is valuable in diagnosing and moitoring patients with a clinical suspicion for one these disorders or newborns with a positive screen. It may be recommended to perform amino acid analysis and urine organic acids together with acylcarnitines to aid the diagnosis of these disorders.

Condition Description

Fatty acid oxication disorders are lipid metabolism disorders that are caused by a deficiency of the enzymes needed to break down fats which results in delayed mental and physicial development. Organic aciduras are a group of disorders in which there is a defect in protein metabolism due to absent or malfunctioning enzymes. This can cause imbalances in metabolic pathways that disrupt the body's normal functioning and development. Elevation of acylcarnities can be diagnostic for several fatty acid oxidation disorders and organic acidurias.

Test Methods and Limitations

This test is performed by tandem mass spectrometry. Tandem mass spectrometry (MS/MS) is an analysis technique that utilizes two mass analyzers to target analytes based on mass and charge. This mass filtering process provides highly sensitive and specific measurements of small molecules or peptides from biological samples.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card
Collection

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.

Resources

General Biochemical and Molecular Requisition Form