| Test Code | B0022 | |
| Test Summary | This test measures succinylacetone and tryosine to aid in monitoring of tyrosinemia. |
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| Turn-Around-Time (TAT)* | 3 days | |
| Acceptable Sample Types | Dried Blood Spots |
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| Acceptable Billing Types |
Self (patient) Payment Institutional Billing
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This test is indicated for individuals with tyrosinemia, on treatment, who are being monitored by their healthcare provider.Â
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.Â
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 spot card
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.