SUGCT Gene Glutaric Aciduria Type 3 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The SUGCT Gene Glutaric Aciduria Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced screening utilizes next-generation sequencing technology to analyze the SUGCT gene, which plays a critical role in the metabolism of amino acids and fatty acids. Glutaric aciduria type 3 is an autosomal recessive condition that can lead to serious health complications if undetected, making early genetic screening essential for at-risk individuals and families.
What This Test Measures and Detects
Our comprehensive genetic analysis focuses on identifying pathogenic variants in the SUCGT gene that are responsible for glutaric aciduria type 3. The test specifically examines:
- Complete coding sequence of the SUGCT gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and large deletions/duplications
- Single nucleotide polymorphisms associated with disease risk
- Autosomal recessive inheritance patterns
The SUGCT gene encodes the enzyme succinyl-CoA:glutarate-CoA transferase, which is essential for the breakdown of lysine, hydroxylysine, and tryptophan. Mutations in this gene disrupt normal metabolic pathways, leading to the accumulation of toxic metabolites that can cause neurological damage and other serious health issues.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This genetic screening is recommended for individuals presenting with:
- Unexplained metabolic acidosis or ketosis
- Developmental delays in infancy or childhood
- Neurological symptoms including seizures or movement disorders
- Family history of glutaric aciduria or related metabolic disorders
- Abnormal newborn screening results suggesting metabolic issues
- Unexplained encephalopathy or coma episodes
- Consanguineous parentage with metabolic disorder concerns
- Planning pregnancy with family history of metabolic diseases
Significant Benefits of Genetic Testing
Early detection through genetic screening provides numerous advantages for patients and families:
- Early Intervention: Enables prompt medical management to prevent complications
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Treatment: Guides dietary modifications and medication strategies
- Risk Assessment: Identifies carrier status in unaffected family members
- Peace of Mind: Reduces uncertainty and anxiety about genetic risks
- Comprehensive Care: Facilitates coordinated management with metabolic specialists
Understanding Your Test Results
Interpretation Guidelines
Our genetic counseling team provides comprehensive result interpretation:
- Positive Result: Identification of two pathogenic variants confirms diagnosis of glutaric aciduria type 3, requiring immediate consultation with a metabolic specialist
- Carrier Status: Detection of one pathogenic variant indicates carrier status with no personal health risk but important implications for family planning
- Negative Result: No pathogenic variants detected significantly reduces but does not completely eliminate the risk of glutaric aciduria type 3
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation
All results include detailed genetic counseling to ensure complete understanding of implications for personal health and family members.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: General Physician and Genetics
- Department: Genetics
- Disease Type: Metabolic Disorders
Nationwide Accessibility
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 more. Our network of certified collection centers ensures accessible genetic testing for communities nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks impact your health decisions. Our SUGCT Gene Glutaric Aciduria Type 3 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare choices. With our limited-time discount pricing and comprehensive genetic counseling support, there’s never been a better time to invest in your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic screening appointment or to speak with our genetic counseling team about your testing options.
Early detection through genetic testing can make a significant difference in managing metabolic disorders and preventing serious complications. Take the first step toward proactive healthcare by booking your SUGCT gene analysis today.
