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Test Code B0021
Test Summary

This test measures succinylacetone to aid in monitoring of tyrosinemia.

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.

Elevated levels of succinylacetone enzyme are associated with tyrosinemia type I.

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

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 succinylacetone levels can aid in maintaining the correct dose of medication and monitoring of metabolite levels within the body.

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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