SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, utilizing cutting-edge next-generation sequencing technology to identify mutations associated with Aicardi-Goutieres Syndrome Type 5. This rare autosomal recessive disorder affects the central nervous system and presents significant diagnostic challenges without specialized genetic testing.
What This Test Measures and Detects
This advanced genetic test specifically analyzes the SAMHD1 gene for pathogenic variants that cause Aicardi-Goutieres Syndrome Type 5. The test employs comprehensive next-generation sequencing to examine:
- Point mutations and single nucleotide variants in the SAMHD1 gene
- Small insertions and deletions affecting gene function
- Copy number variations and structural abnormalities
- All coding regions and splice sites of the SAMHD1 gene
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Early-onset neurological symptoms in infancy or childhood
- Progressive encephalopathy with developmental regression
- Intracranial calcifications detected on brain imaging
- Chronic cerebrospinal fluid lymphocytosis
- Family history of Aicardi-Goutieres Syndrome or similar neurological conditions
- Unexplained developmental delays with neurological involvement
- Autoimmune features affecting the central nervous system
Clinical Benefits of Genetic Testing
Undergoing the SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Aicardi-Goutieres Syndrome Type 5 with high precision
- Treatment Guidance: Informs targeted therapeutic approaches and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely implementation of supportive care measures
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic SAMHD1 gene mutations consistent with Aicardi-Goutieres Syndrome Type 5 diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the SAMHD1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test – Discount Price | $500 |
| SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and comprehensive care. Our experienced genetic counselors and neurological specialists are ready to assist you through the testing process and provide personalized guidance based on your results.
Call or WhatsApp us today at +1(267) 388-9828 to book your SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test and receive professional genetic counseling services.
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Pre-test Requirements: Clinical History and Genetic Counseling Session
