Succinylacetone Urine Test – Comprehensive Metabolic Screening
Understanding the Succinylacetone Urine Test
The Succinylacetone Urine Test represents a sophisticated diagnostic approach in the field of genetic metabolic disorders. This specialized screening plays a vital role in detecting hereditary tyrosinemia type 1, a rare but serious condition affecting the body’s metabolic processes. The test’s significance lies in its ability to identify specific biochemical markers that indicate disruptions in tyrosine metabolism pathways.
What Does This Test Measure?
This advanced diagnostic test specifically measures succinylacetone levels in urine samples. Succinylacetone serves as a crucial biomarker that accumulates when there are deficiencies in the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme deficiency characterizes hereditary tyrosinemia type 1, making succinylacetone detection essential for accurate diagnosis and subsequent treatment planning.
- Detects elevated succinylacetone concentrations
- Identifies metabolic pathway disruptions
- Provides quantitative measurement of biomarker levels
- Supports differential diagnosis of metabolic disorders
Who Should Consider This Test?
This screening is particularly important for individuals displaying symptoms suggestive of metabolic disorders or those with family histories of hereditary conditions. Key candidates include:
Clinical Indications and Symptoms
- Infants and children with unexplained liver dysfunction
- Patients presenting with failure to thrive or developmental delays
- Individuals with renal tubular dysfunction symptoms
- Patients with suspected metabolic acidosis
- Those with family history of tyrosinemia or metabolic disorders
- Newborns with abnormal newborn screening results
Benefits of Succinylacetone Urine Testing
Undergoing this specialized screening offers numerous advantages for patients and healthcare providers alike:
Early Detection and Intervention
Early identification of hereditary tyrosinemia enables prompt intervention strategies that can significantly improve patient outcomes. Timely diagnosis allows for implementation of dietary modifications and medical treatments before irreversible organ damage occurs.
Comprehensive Metabolic Assessment
The test provides valuable insights into metabolic pathway functionality, helping clinicians understand the specific nature of metabolic disruptions and tailor treatment approaches accordingly.
Family Planning Guidance
Positive results can inform genetic counseling and family planning decisions, helping families understand inheritance patterns and recurrence risks.
Understanding Your Test Results
Interpreting succinylacetone urine test results requires professional medical expertise, but general guidance includes:
Normal Results
Undetectable or very low levels of succinylacetone typically indicate normal tyrosine metabolic pathways. However, clinical correlation with symptoms and other laboratory findings remains essential.
Elevated Levels
Increased succinylacetone concentrations suggest possible hereditary tyrosinemia type 1. Further confirmatory testing and comprehensive metabolic evaluation are usually recommended when elevated levels are detected.
Clinical Correlation
Results should always be interpreted in the context of clinical presentation, family history, and additional laboratory findings to ensure accurate diagnosis and appropriate management.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | Succinylacetone Urine Test |
| Discount Price | $126 USD |
| Regular Price | $212 USD |
| Turnaround Time | Sample Monday/Thursday by 9 AM; Report Thursday/Monday |
| Sample Type | 10 mL (5 mL minimum) aliquot of random urine in sterile screw-capped container |
| Methodology | Gas Chromatography/Mass Spectrometry |
| Specialty | Pediatric Genetics |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take Action for Better Health
Don’t wait to address potential metabolic concerns. Early detection through the Succinylacetone Urine Test can make a significant difference in managing hereditary tyrosinemia and related conditions. Our experienced genetic specialists are ready to assist you with comprehensive testing and personalized guidance.
Book your test today by calling +1(267) 388-9828 or visit our website to schedule your appointment. Take the first step toward understanding your metabolic health with our affordable $126 screening option.
