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  • Home
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  • Screening & Monitoring
  • Amino Acid Profile

Amino Acid Profile

Amino Acid Profile
Test code: B2020
Test Inquiry
Test code: B2020
Test Inquiry

Amino Acid Profile

Test Code B2020
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
Self (patient) Price $218.90
Institutional Price $218.90
*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.
Test code: B2020
Request a Sample Kit
Download PDF Version
Resources
General Biochemical and Molecular Requisition Form
Test Inquiry
  • Quick links
  • Test information
  • How to order
  • Get help

Test information

  • Test description
  • Indications for testing
  • Condition description
  • Test methods and limitations
  • Detailed sample requirements
  • Resources

Test description

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.

Indications for testing

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.

Condition description

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.

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

How To Order

Step 1
Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2
Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
 

Step 3
Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

Learn More

1. Build Your Custom Panel

Complete the Genomics Gene Tool Form, and a unique test code will be generated for you.

 

2. Complete and print the test requisition

Complete & print the test requisition.

Ensure that:

  • You entered your unique test code from the Genomics Gene Tool
  • All sections are complete
  • Your patient has signed an informed consent
     

3. Collect and Send Patient Sample

Collect patient sample.

  1. Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient's name and date of birth.
  2. Note: if you do not have a Revvity Omics kit available in your office, please email or call us at 1-866-354-2910.

Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:

✔   Patient sample

✔   Completed informed consent

✔   Test requisition form

✔   Any applicable medical records or clinical notes
 

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