DDC Gene Aromatic L-Amino Acid Decarboxylase Deficiency (AADC) NGS Genetic DNA Test
Comprehensive Genetic Testing for AADC Deficiency
The DDC Gene Aromatic L-Amino Acid Decarboxylase Deficiency (AADC) NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying this rare but serious metabolic disorder. Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive condition that disrupts the synthesis of crucial neurotransmitters, including dopamine and serotonin. This comprehensive genetic analysis provides definitive diagnosis and enables personalized treatment planning for affected individuals and their families.
What This Test Measures and Detects
This advanced genetic test utilizes next-generation sequencing (NGS) technology to thoroughly analyze the DDC gene located on chromosome 7p12.2. The test specifically identifies:
- Pathogenic variants and mutations in the DDC gene
- Single nucleotide polymorphisms affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants associated with AADC deficiency
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of AADC deficiency, including:
- Infants and children with developmental delays and hypotonia
- Patients experiencing oculogyric crises and dystonic movements
- Individuals with autonomic dysfunction including temperature instability
- Those with feeding difficulties and gastrointestinal symptoms
- Patients showing signs of neurotransmitter deficiency
- Family members of diagnosed AADC deficiency patients
- Couples with family history planning pregnancy
Key Benefits of AADC Genetic Testing
Undergoing the DDC Gene AADC Deficiency NGS Test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out AADC deficiency with high accuracy
- Early Intervention: Enables prompt initiation of targeted therapies
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Informs medication choices and management strategies
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and metabolic specialists:
- Positive Result: Indicates pathogenic mutations in the DDC gene confirming AADC deficiency diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the DDC gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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 more. Our network of certified genetic testing facilities ensures accessible, reliable testing for patients nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. Our expert team is ready to guide you through the genetic testing process with compassion and clinical excellence. Contact us today to schedule your DDC Gene AADC Deficiency NGS Genetic DNA Test and take control of your health journey.
Call or WhatsApp: +1(267) 388-9828
Book your comprehensive genetic assessment today and receive the answers you need for informed healthcare decisions.
