ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This sophisticated test utilizes next-generation sequencing technology to analyze the ADSL gene, which plays a critical role in purine metabolism. Adenylosuccinase deficiency is an autosomal recessive disorder that affects the breakdown of purines, essential components of DNA and RNA, leading to the accumulation of toxic metabolites that can cause severe neurological damage.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets mutations in the ADSL (adenylosuccinate lyase) gene located on chromosome 22q13. The test identifies:
- Point mutations affecting enzyme function
- Insertion and deletion variants
- Splice site mutations disrupting gene expression
- Compound heterozygous mutations
- Novel genetic variations associated with disease severity
Who Should Consider ADSL Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Seizures that are difficult to control with standard medications
- Autism spectrum disorder features with metabolic concerns
- Intellectual disability of unknown origin
- Family history of adenylosuccinase deficiency
- Abnormal neurological findings without clear diagnosis
- Motor coordination problems and muscle weakness
- Behavioral abnormalities coupled with growth delays
Clinical Benefits of Early Detection
Early diagnosis through ADSL genetic testing provides numerous advantages:
- Enables targeted treatment approaches to manage symptoms
- Facilitates early intervention strategies for developmental support
- Provides accurate genetic counseling for family planning decisions
- Helps avoid unnecessary diagnostic procedures and treatments
- Allows for personalized nutritional and therapeutic interventions
- Supports enrollment in specialized clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming adenylosuccinase deficiency diagnosis
- Negative Result: No disease-causing mutations detected in the ADSL gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene without symptoms
All results include detailed explanations and recommendations for follow-up care with genetic specialists.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our ADSL Gene Adenylosuccinase Deficiency NGS Genetic DNA Test provides the clarity needed for informed medical decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you can take proactive steps toward better health management.
Call us now at +1(267) 388-9828 to schedule your genetic test or speak with our genetic specialists about your testing needs.
