TALDO1 Gene Transaldolase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The TALDO1 Gene Transaldolase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets the TALDO1 gene, which encodes the transaldolase enzyme crucial for the pentose phosphate pathway – a fundamental metabolic process essential for cellular energy production and antioxidant defense mechanisms.
Understanding Transaldolase Deficiency
Transaldolase deficiency is an autosomal recessive metabolic disorder characterized by impaired function of the transaldolase enzyme. This deficiency disrupts the pentose phosphate pathway, leading to abnormal accumulation of polyols and other metabolic intermediates. The condition typically manifests in early childhood and can cause progressive liver disease, hemolytic anemia, and developmental challenges.
What This Test Detects
Our NGS-based genetic test provides comprehensive analysis of the TALDO1 gene to identify:
- Pathogenic variants and mutations in the TALDO1 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants associated with transaldolase deficiency
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing technology, this test offers unparalleled accuracy in detecting genetic abnormalities. The NGS platform enables simultaneous analysis of multiple genetic regions, providing comprehensive coverage of the TALDO1 gene with high sensitivity and specificity.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained liver dysfunction or hepatomegaly
- Chronic hemolytic anemia without clear cause
- Developmental delays or growth retardation
- Family history of metabolic disorders
- Elevated polyol levels in urine or blood tests
- Recurrent episodes of metabolic acidosis
- Suspected inborn errors of metabolism
Clinical Indications
Patients displaying symptoms such as jaundice, fatigue, poor weight gain, or abnormal liver function tests should consider genetic testing. Early diagnosis is crucial for implementing appropriate dietary modifications and therapeutic interventions.
Benefits of TALDO1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirm or rule out transaldolase deficiency with high accuracy
- Early Intervention: Enable timely implementation of treatment strategies
- Family Planning: Provide crucial information for genetic counseling and family planning decisions
- Personalized Treatment: Guide development of individualized management plans
- Prognostic Information: Help predict disease progression and potential complications
- Research Contribution: Contribute to ongoing research and understanding of rare metabolic disorders
Clinical Utility
The results from this test empower healthcare providers to make informed decisions regarding patient management, including dietary recommendations, monitoring protocols, and potential therapeutic approaches specific to transaldolase deficiency.
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the TALDO1 gene consistent with transaldolase deficiency. This confirmation enables:
- Implementation of targeted dietary management
- Regular monitoring of liver function and hematological parameters
- Family member testing and genetic counseling
- Development of long-term care plans
Negative Result
A negative result suggests that no disease-causing mutations were detected in the TALDO1 gene. However, clinical correlation with symptoms and additional metabolic testing may be recommended to rule out other conditions.
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, our genetic counselors will provide guidance on interpretation and recommend appropriate follow-up testing or monitoring.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | TALDO1 Gene Transaldolase Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create family pedigree chart
- Review of previous metabolic testing results
- Discussion of testing implications with healthcare provider
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Easy Sample Collection
Sample collection is simple and convenient. Choose from blood draw at our certified centers, extracted DNA submission, or the innovative FTA card method requiring just one drop of blood.
Take Control of Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our TALDO1 Gene Transaldolase Deficiency NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you’re investing in accurate, reliable diagnostic information.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Call us at +1(267) 388-9828 or visit our website to book your test online. Our team is available to answer your questions and guide you through the testing process.
Take the first step toward definitive diagnosis and personalized care. Book your TALDO1 genetic test today and gain the clarity you deserve for better health management.
