LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Genetic DNA Test
Understanding LIAS Gene Deficiency
The LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Genetic DNA Test represents a breakthrough in diagnosing rare metabolic disorders affecting mitochondrial function. This comprehensive genetic analysis targets mutations in the LIAS gene, which encodes the enzyme responsible for synthesizing lipoic acid – an essential cofactor for multiple mitochondrial enzyme complexes including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and the glycine cleavage system.
What This Test Measures
Our advanced Next-Generation Sequencing (NGS) technology precisely identifies pathogenic variants in the LIAS gene that disrupt lipoic acid biosynthesis. The test comprehensively analyzes:
- Single nucleotide variants (SNVs) throughout the LIAS gene coding regions
- Small insertions and deletions (indels) affecting protein function
- Copy number variations (CNVs) that may impact gene dosage
- Splice site mutations altering mRNA processing
Who Should Consider This Test
This genetic test is recommended for individuals presenting with clinical features suggestive of lipoic acid synthesis defects:
- Infants and children with unexplained developmental delay or regression
- Patients experiencing recurrent seizures unresponsive to conventional treatments
- Individuals with hypotonia (low muscle tone) and feeding difficulties
- Cases of metabolic acidosis with elevated lactate levels
- Patients with abnormal brain MRI findings including leukodystrophy
- Family history of similar neurological or metabolic disorders
- Unexplained encephalopathy in early childhood
Clinical Benefits of Early Detection
Early diagnosis through LIAS gene testing provides significant advantages:
- Targeted Treatment Planning: Enables implementation of specific therapeutic approaches including lipoic acid supplementation
- Family Genetic Counseling: Provides accurate recurrence risk assessment for future pregnancies
- Prevention of Complications: Early intervention may prevent progressive neurological damage
- Improved Prognosis: Timely management can significantly enhance developmental outcomes
- Definitive Diagnosis: Eliminates diagnostic uncertainty and unnecessary testing
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Identification of pathogenic LIAS gene variants confirms diagnosis and guides targeted management strategies
- Negative Result: Absence of detectable mutations reduces likelihood of LIAS-related disorder but doesn’t exclude other metabolic conditions
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation for interpretation
- Carrier Status: Identifies individuals with single copy mutations who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase 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) |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Relevant medical records and previous test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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 genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Answers
Don’t let diagnostic uncertainty delay appropriate care. Our LIAS Gene Deficiency testing provides the clarity needed to make informed medical decisions and implement effective treatment strategies. Early detection can significantly impact long-term neurological outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results.
