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Test Code B2020
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 amino acid biochemical profile is performed for detection of amino acid disorders. Other observations made by this assay include hyperalimentation, liver disesae, medium chain triglyceride oil administration, presence of EDTA anticoagulants in blood specimen, treatment with benzoate, pyvolic acid or valproic acid and carnitine update deficiency.

Amino acid profile analysis is indicated when there is a clinical concern for a metabolic condition or in follow up from a positive newborn screen. Signs and symptoms of a metabolic disorder include vomiting, lethargy and failure to thrive. Amino acid profiles can detect amino acid disorders such as PKU, tyrosinemias, maple syrup urine disease, urea cycle disorders, organic acidemias and homocytinuria.  To aid in diagnosis, it may be indicated to run an amino acid profile with other metabolic profiles such as acylcarnitine and urine organic acids. 

Amino acid metabolism disorders are inherited metabolic disorders that result from defects either in the breakdown of amino acids or in the body's ability to get amino acids into cells.  In the United States, newborns are routinely screened for several amino acid disorders.  Early diagnosis of these disorders is important to foster a change in medical management to improve outcomes for individuals with these disorders. 

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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