Succinylacetone, Blood Spot
Use
This test is used as a second-tier newborn screening for tyrosinemia type 1 (HT-1), particularly when there's a nonspecific elevation of tyrosine. HT-1 is an autosomal recessive condition that primarily affects the liver, kidneys, and peripheral nerves. It can cause severe liver disease, renal tubular dysfunction, and neurologic crises. Succinylacetone is a specific marker for HT-1 and is not consistently measured by newborn screening programs. This test assesses succinylacetone in newborn blood spots by tandem mass spectrometry and can assist in diagnosing HT-1 when combined with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of FAH.
Special Instructions
Not provided.
Limitations
Normal levels of succinylacetone may be present in affected individuals undergoing treatment, which could lead to false-negative results. In rare instances of HT-1, neither tyrosine nor succinylacetone may be elevated.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Succinylacetone
AnalyteTyrosine
Analyte
LOINC Codes
- 53231-7 - Succinylacetone DBS-sCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
- 53231-7 - Succinylacetone DBS-sCnc
- 35571-9 - Tyrosine DBS-sCnc
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Dried Blood Spot
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card
Collection Instructions
Alternative for patients over 1 year is a fingerstick. Let blood dry on the card at ambient temperature horizontally for a minimum of 3 hours. Avoid exposure to heat, direct sunlight, and do not stack wet specimens.
Storage Instructions
Keep specimen dry.
Causes for Rejection
Blood spot specimens with serum rings, multiple layers, or insufficient specimens may be rejected.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 14 days |
| Frozen | 90 days |