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Test Code B0210
Test Summary
Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

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

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. 

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. 

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.

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

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

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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.

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