Tyrosinemia Monitoring

Omics test Model
Test Code B0022
Test Summary

This test measures succinylacetone and tryosine to aid in monitoring of tyrosinemia.
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
*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.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Code: B0022
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General Biochemical and Molecular Requisition Form

Indications for Testing

This test is indicated for individuals with tyrosinemia, on treatment, who are being monitored by their healthcare provider.

Condition Description

Tyrosinemia is an inherited metabolic condition in which the body does not have the enzyme FAH needed to metabolize tyrosine.  In untreated, tyrosine and its byproducts build up in tissues and organs which can lead to serious health problems. Treatment consists of a diet modifications and the use of a drug that prevents the formation of succinylacetone, the toxic agent responsible for liver and kidney damage. For patients with tyrosinemia, frequent monitoring of tyrosine and succinylacetone levels can aid in maintaining the correct dose of medication and monitoring of metabolite levels within the body.

Test Methods and Limitations

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