Test Code | B0021 |
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Test Summary |
This test measures succinylacetone 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 |
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.
Collection Container(s) | Dried blood spot card |
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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.
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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. |